Canonical Allele Identifier: CA362857222
Gene: EDN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.12295964C>G , CM000668.2:g.12295964C>G GRCh38
NC_000006.11:g.12296197C>G , CM000668.1:g.12296197C>G GRCh37
NC_000006.10:g.12404183C>G NCBI36
NG_016196.1:g.10669C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000379375.6:c.536C>G MANE Select ENSP00000368683.5:p.Ser179Trp
ENST00000379375.5:c.536C>G ENSP00000368683.5:p.Ser179Trp
NM_001168319.1:c.533C>G NP_001161791.1:p.Ser178Trp
NM_001955.4:c.536C>G NP_001946.3:p.Ser179Trp
XM_011514330.1:c.536C>G XP_011512632.1:p.Ser179Trp
XM_011514331.1:c.536C>G XP_011512633.1:p.Ser179Trp
XM_011514332.1:c.533C>G XP_011512634.1:p.Ser178Trp
XM_011514330.2:c.536C>G XP_011512632.1:p.Ser179Trp
XM_011514331.3:c.536C>G XP_011512633.1:p.Ser179Trp
XM_011514332.2:c.533C>G XP_011512634.1:p.Ser178Trp
XM_017010331.1:c.536C>G XP_016865820.1:p.Ser179Trp
NM_001955.5:c.536C>G MANE Select NP_001946.3:p.Ser179Trp
NM_001168319.2:c.533C>G NP_001161791.1:p.Ser178Trp