Canonical Allele Identifier: CA448427937
Gene: EDN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.12296204C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.12295971C>G , CM000668.2:g.12295971C>G GRCh38
NC_000006.11:g.12296204C>G , CM000668.1:g.12296204C>G GRCh37
NC_000006.10:g.12404190C>G NCBI36
NG_016196.1:g.10676C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000379375.6:c.543C>G MANE Select ENSP00000368683.5:p.Thr181=
ENST00000379375.5:c.543C>G ENSP00000368683.5:p.Thr181=
NM_001168319.1:c.540C>G NP_001161791.1:p.Thr180=
NM_001955.4:c.543C>G NP_001946.3:p.Thr181=
XM_011514330.1:c.543C>G XP_011512632.1:p.Thr181=
XM_011514331.1:c.543C>G XP_011512633.1:p.Thr181=
XM_011514332.1:c.540C>G XP_011512634.1:p.Thr180=
XM_011514330.2:c.543C>G XP_011512632.1:p.Thr181=
XM_011514331.3:c.543C>G XP_011512633.1:p.Thr181=
XM_011514332.2:c.540C>G XP_011512634.1:p.Thr180=
XM_017010331.1:c.543C>G XP_016865820.1:p.Thr181=
NM_001955.5:c.543C>G MANE Select NP_001946.3:p.Thr181=
NM_001168319.2:c.540C>G NP_001161791.1:p.Thr180=