Canonical Allele Identifier: CA362857227
Gene: EDN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.12295967A>C , CM000668.2:g.12295967A>C GRCh38
NC_000006.11:g.12296200A>C , CM000668.1:g.12296200A>C GRCh37
NC_000006.10:g.12404186A>C NCBI36
NG_016196.1:g.10672A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000379375.6:c.539A>C MANE Select ENSP00000368683.5:p.Glu180Ala
ENST00000379375.5:c.539A>C ENSP00000368683.5:p.Glu180Ala
NM_001168319.1:c.536A>C NP_001161791.1:p.Glu179Ala
NM_001955.4:c.539A>C NP_001946.3:p.Glu180Ala
XM_011514330.1:c.539A>C XP_011512632.1:p.Glu180Ala
XM_011514331.1:c.539A>C XP_011512633.1:p.Glu180Ala
XM_011514332.1:c.536A>C XP_011512634.1:p.Glu179Ala
XM_011514330.2:c.539A>C XP_011512632.1:p.Glu180Ala
XM_011514331.3:c.539A>C XP_011512633.1:p.Glu180Ala
XM_011514332.2:c.536A>C XP_011512634.1:p.Glu179Ala
XM_017010331.1:c.539A>C XP_016865820.1:p.Glu180Ala
NM_001955.5:c.539A>C MANE Select NP_001946.3:p.Glu180Ala
NM_001168319.2:c.536A>C NP_001161791.1:p.Glu179Ala