Canonical Allele Identifier: CA409709013

Gene: EDN3

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.59324399T>A , CM000682.2:g.59324399T>A	GRCh38
NC_000020.10:g.57899454T>A , CM000682.1:g.57899454T>A	GRCh37
NC_000020.9:g.57332849T>A	NCBI36
NG_008050.1:g.28956T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_207034.3:c.657T>A MANE Select	NP_996917.1:p.Ser219Arg
ENST00000337938.7:c.657T>A MANE Select	ENSP00000337128.2:p.Ser219Arg
NM_001302455.1:c.*64T>A	NP_001289384.1:n.*64T>A
NM_001302455.2:c.*64T>A	NP_001289384.1:n.*64T>A
NM_001302456.1:c.*32T>A	NP_001289385.1:n.*32T>A
NM_001302456.2:c.*32T>A	NP_001289385.1:n.*32T>A
NM_207032.2:c.*32T>A	NP_996915.1:n.*32T>A
NM_207032.3:c.*32T>A	NP_996915.1:n.*32T>A
NM_207033.2:c.615T>A	NP_996916.1:p.Ser205Arg
NM_207033.3:c.615T>A	NP_996916.1:p.Ser205Arg
NM_207034.2:c.657T>A	NP_996917.1:p.Ser219Arg
ENST00000311585.11:c.*32T>A	ENSP00000311854.7:n.*32T>A
ENST00000337938.6:c.657T>A	ENSP00000337128.2:p.Ser219Arg
ENST00000371025.7:c.*32T>A	ENSP00000360064.3:n.*32T>A
ENST00000371028.6:c.657T>A	ENSP00000360067.2:p.Ser219Arg
ENST00000395654.3:c.615T>A	ENSP00000379015.3:p.Ser205Arg
ENST00000644821.1:c.*118T>A	ENSP00000493472.1:n.*118T>A
ENST00000671744.1:n.1298T>A
ENST00000672969.1:c.559T>A
XM_005260312.3:c.696T>A	XP_005260369.1:p.Ser232Arg
XM_005260312.4:c.696T>A	XP_005260369.1:p.Ser232Arg
XM_005260313.3:c.*32T>A	XP_005260370.1:n.*32T>A
XM_005260313.5:c.*32T>A	XP_005260370.1:n.*32T>A
XM_006723734.2:c.*95T>A	XP_006723797.1:n.*95T>A
XM_006723734.3:c.*95T>A	XP_006723797.1:n.*95T>A
XM_011528655.1:c.675T>A	XP_011526957.1:p.Ser225Arg
XM_011528655.2:c.675T>A	XP_011526957.1:p.Ser225Arg
XM_024451847.1:c.*100T>A	XP_024307615.1:n.*100T>A
XM_024451848.1:c.*104T>A	XP_024307616.1:n.*104T>A
XR_002958461.1:n.1134T>A
XR_002958462.1:n.1162T>A
XR_936513.1:n.1139T>A
XR_936513.2:n.1147T>A