Canonical Allele Identifier: CA9930475

Gene: EDN3

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.59324431G>A , CM000682.2:g.59324431G>A	GRCh38
NC_000020.10:g.57899486G>A , CM000682.1:g.57899486G>A	GRCh37
NC_000020.9:g.57332881G>A	NCBI36
NG_008050.1:g.28988G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337938.7:c.689G>A MANE Select	ENSP00000337128.2:p.Arg230His
ENST00000644821.1:c.*150G>A	ENSP00000493472.1:n.*150G>A
ENST00000671744.1:n.1330G>A
ENST00000672969.1:c.591G>A
ENST00000311585.11:c.*64G>A	ENSP00000311854.7:n.*64G>A
ENST00000337938.6:c.689G>A	ENSP00000337128.2:p.Arg230His
ENST00000371025.7:c.*64G>A	ENSP00000360064.3:n.*64G>A
ENST00000371028.6:c.689G>A	ENSP00000360067.2:p.Arg230His
ENST00000395654.3:c.647G>A	ENSP00000379015.3:p.Arg216His
NM_001302455.1:c.*96G>A	NP_001289384.1:n.*96G>A
NM_001302456.1:c.*64G>A	NP_001289385.1:n.*64G>A
NM_207032.2:c.*64G>A	NP_996915.1:n.*64G>A
NM_207033.2:c.647G>A	NP_996916.1:p.Arg216His
NM_207034.2:c.689G>A	NP_996917.1:p.Arg230His
XM_005260312.3:c.728G>A	XP_005260369.1:p.Arg243His
XM_005260313.3:c.*64G>A	XP_005260370.1:n.*64G>A
XM_011528655.1:c.707G>A	XP_011526957.1:p.Arg236His
XM_005260312.4:c.728G>A	XP_005260369.1:p.Arg243His
XM_005260313.5:c.*64G>A	XP_005260370.1:n.*64G>A
XM_006723734.3:c.*127G>A	XP_006723797.1:n.*127G>A
XM_011528655.2:c.707G>A	XP_011526957.1:p.Arg236His
NM_207034.3:c.689G>A MANE Select	NP_996917.1:p.Arg230His
NM_001302455.2:c.*96G>A	NP_001289384.1:n.*96G>A
NM_001302456.2:c.*64G>A	NP_001289385.1:n.*64G>A
NM_207032.3:c.*64G>A	NP_996915.1:n.*64G>A
NM_207033.3:c.647G>A	NP_996916.1:p.Arg216His