Canonical Allele Identifier: CA448427633

Gene: EDN1

Linked Data

• MyVariant Identifiers: chr6:g.12292575A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.12292342A>G , CM000668.2:g.12292342A>G	GRCh38
NC_000006.11:g.12292575A>G , CM000668.1:g.12292575A>G	GRCh37
NC_000006.10:g.12400561A>G	NCBI36
NG_016196.1:g.7047A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379375.6:c.66A>G MANE Select	ENSP00000368683.5:p.Ala22=
ENST00000379375.5:c.66A>G	ENSP00000368683.5:p.Ala22=
NM_001168319.1:c.65-2A>G	NP_001161791.1:n.65-2A>G
NM_001955.4:c.66A>G	NP_001946.3:p.Ala22=
XM_011514330.1:c.66A>G	XP_011512632.1:p.Ala22=
XM_011514331.1:c.66A>G	XP_011512633.1:p.Ala22=
XM_011514332.1:c.65-2A>G	XP_011512634.1:n.65-2A>G
XM_011514330.2:c.66A>G	XP_011512632.1:p.Ala22=
XM_011514331.3:c.66A>G	XP_011512633.1:p.Ala22=
XM_011514332.2:c.65-2A>G	XP_011512634.1:n.65-2A>G
XM_017010331.1:c.66A>G	XP_016865820.1:p.Ala22=
NM_001955.5:c.66A>G MANE Select	NP_001946.3:p.Ala22=
NM_001168319.2:c.65-2A>G	NP_001161791.1:n.65-2A>G