Canonical Allele Identifier: CA362857218
Gene: EDN1 HGNC NCBI

Linked Data

dbSNP Id: rs1358679492
gnomAD v2: 6-12296196-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.12295963T>A , CM000668.2:g.12295963T>A GRCh38
NC_000006.11:g.12296196T>A , CM000668.1:g.12296196T>A GRCh37
NC_000006.10:g.12404182T>A NCBI36
NG_016196.1:g.10668T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000379375.6:c.535T>A MANE Select ENSP00000368683.5:p.Ser179Thr
ENST00000379375.5:c.535T>A ENSP00000368683.5:p.Ser179Thr
NM_001168319.1:c.532T>A NP_001161791.1:p.Ser178Thr
NM_001955.4:c.535T>A NP_001946.3:p.Ser179Thr
XM_011514330.1:c.535T>A XP_011512632.1:p.Ser179Thr
XM_011514331.1:c.535T>A XP_011512633.1:p.Ser179Thr
XM_011514332.1:c.532T>A XP_011512634.1:p.Ser178Thr
XM_011514330.2:c.535T>A XP_011512632.1:p.Ser179Thr
XM_011514331.3:c.535T>A XP_011512633.1:p.Ser179Thr
XM_011514332.2:c.532T>A XP_011512634.1:p.Ser178Thr
XM_017010331.1:c.535T>A XP_016865820.1:p.Ser179Thr
NM_001955.5:c.535T>A MANE Select NP_001946.3:p.Ser179Thr
NM_001168319.2:c.532T>A NP_001161791.1:p.Ser178Thr