ClinVar

NM_207034.3(EDN3):c.49G>A (p.Ala17Thr)

Gene:

EDN3:endothelin 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

20q13.32

Genomic location:

• Chr20: 59300861 (on Assembly GRCh38)
• Chr20: 57875916 (on Assembly GRCh37)

Preferred name:

NM_207034.3(EDN3):c.49G>A (p.Ala17Thr)

HGVS:

• NC_000020.11:g.59300861G>A
• NG_008050.1:g.5418G>A
• NM_001302455.2:c.49G>A
• NM_001302456.2:c.49G>A
• NM_207032.3:c.49G>A
• NM_207033.3:c.49G>A
• NM_207034.3:c.49G>AMANE SELECT
• NP_001289384.1:p.Ala17Thr
• NP_001289385.1:p.Ala17Thr
• NP_996915.1:p.Ala17Thr
• NP_996916.1:p.Ala17Thr
• NP_996917.1:p.Ala17Thr
• LRG_1381t1:c.49G>A
• LRG_1381:g.5418G>A
• LRG_1381p1:p.Ala17Thr
• NC_000020.10:g.57875916G>A
• NM_207034.1:c.49G>A
• NM_207034.2:c.49G>A
• P14138:p.Ala17Thr

This HGVS expression did not pass validation

Protein change:

A17T; ALA17THR

Links:

UniProtKB: P14138#VAR_009078; OMIM: 131242.0004; dbSNP: rs11570255

NCBI 1000 Genomes Browser:

rs11570255

Molecular consequence:

• NM_001302455.2:c.49G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001302456.2:c.49G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_207032.3:c.49G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_207033.3:c.49G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_207034.3:c.49G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1