Canonical Allele Identifier: CA448427992
Gene: EDN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.12296058A>C , CM000668.2:g.12296058A>C GRCh38
NC_000006.11:g.12296291A>C , CM000668.1:g.12296291A>C GRCh37
NC_000006.10:g.12404277A>C NCBI36
NG_016196.1:g.10763A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000379375.6:c.630A>C MANE Select ENSP00000368683.5:p.Ala210=
ENST00000379375.5:c.630A>C ENSP00000368683.5:p.Ala210=
NM_001168319.1:c.627A>C NP_001161791.1:p.Ala209=
NM_001955.4:c.630A>C NP_001946.3:p.Ala210=
XM_011514330.1:c.630A>C XP_011512632.1:p.Ala210=
XM_011514331.1:c.630A>C XP_011512633.1:p.Ala210=
XM_011514332.1:c.627A>C XP_011512634.1:p.Ala209=
XM_011514330.2:c.630A>C XP_011512632.1:p.Ala210=
XM_011514331.3:c.630A>C XP_011512633.1:p.Ala210=
XM_011514332.2:c.627A>C XP_011512634.1:p.Ala209=
XM_017010331.1:c.630A>C XP_016865820.1:p.Ala210=
NM_001955.5:c.630A>C MANE Select NP_001946.3:p.Ala210=
NM_001168319.2:c.627A>C NP_001161791.1:p.Ala209=