Canonical Allele Identifier: CA316926107

Gene: EDN3

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.59321024G>T , CM000682.2:g.59321024G>T	GRCh38
NC_000020.10:g.57896079G>T , CM000682.1:g.57896079G>T	GRCh37
NC_000020.9:g.57329474G>T	NCBI36
NG_008050.1:g.25581G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_207034.3:c.373G>T MANE Select	NP_996917.1:p.Val125Leu
ENST00000337938.7:c.373G>T MANE Select	ENSP00000337128.2:p.Val125Leu
NM_001302455.1:c.373G>T	NP_001289384.1:p.Val125Leu
NM_001302455.2:c.373G>T	NP_001289384.1:p.Val125Leu
NM_001302456.1:c.373G>T	NP_001289385.1:p.Val125Leu
NM_001302456.2:c.373G>T	NP_001289385.1:p.Val125Leu
NM_207032.2:c.373G>T	NP_996915.1:p.Val125Leu
NM_207032.3:c.373G>T	NP_996915.1:p.Val125Leu
NM_207033.2:c.373G>T	NP_996916.1:p.Val125Leu
NM_207033.3:c.373G>T	NP_996916.1:p.Val125Leu
NM_207034.2:c.373G>T	NP_996917.1:p.Val125Leu
ENST00000311585.11:c.373G>T	ENSP00000311854.7:p.Val125Leu
ENST00000337938.6:c.373G>T	ENSP00000337128.2:p.Val125Leu
ENST00000371025.7:c.373G>T	ENSP00000360064.3:p.Val125Leu
ENST00000371028.6:c.373G>T	ENSP00000360067.2:p.Val125Leu
ENST00000395654.3:c.373G>T	ENSP00000379015.3:p.Val125Leu
ENST00000644821.1:c.373G>T	ENSP00000493472.1:p.Val125Leu
ENST00000671744.1:n.1014G>T
ENST00000672969.1:c.210G>T
XM_005260312.3:c.373G>T	XP_005260369.1:p.Val125Leu
XM_005260312.4:c.373G>T	XP_005260369.1:p.Val125Leu
XM_005260313.3:c.373G>T	XP_005260370.1:p.Val125Leu
XM_005260313.5:c.373G>T	XP_005260370.1:p.Val125Leu
XM_006723734.2:c.373G>T	XP_006723797.1:p.Val125Leu
XM_006723734.3:c.373G>T	XP_006723797.1:p.Val125Leu
XM_011528655.1:c.373G>T	XP_011526957.1:p.Val125Leu
XM_011528655.2:c.373G>T	XP_011526957.1:p.Val125Leu
XM_024451847.1:c.373G>T	XP_024307615.1:p.Val125Leu
XM_024451848.1:c.373G>T	XP_024307616.1:p.Val125Leu
XR_002958461.1:n.771G>T
XR_002958462.1:n.771G>T
XR_936513.1:n.762G>T
XR_936513.2:n.770G>T