Canonical Allele Identifier: CA511341886
Gene: EDN3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.57876749C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.59301694C>T , CM000682.2:g.59301694C>T GRCh38
NC_000020.10:g.57876749C>T , CM000682.1:g.57876749C>T GRCh37
NC_000020.9:g.57310144C>T NCBI36
NG_008050.1:g.6251C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000337938.7:c.337C>T MANE Select ENSP00000337128.2:p.Leu113=
ENST00000644821.1:c.337C>T ENSP00000493472.1:p.Leu113=
ENST00000671744.1:n.978C>T
ENST00000672969.1:c.174C>T
ENST00000311585.11:c.337C>T ENSP00000311854.7:p.Leu113=
ENST00000337938.6:c.337C>T ENSP00000337128.2:p.Leu113=
ENST00000371025.7:c.337C>T ENSP00000360064.3:p.Leu113=
ENST00000371028.6:c.337C>T ENSP00000360067.2:p.Leu113=
ENST00000395654.3:c.337C>T ENSP00000379015.3:p.Leu113=
NM_001302455.1:c.337C>T NP_001289384.1:p.Leu113=
NM_001302456.1:c.337C>T NP_001289385.1:p.Leu113=
NM_207032.2:c.337C>T NP_996915.1:p.Leu113=
NM_207033.2:c.337C>T NP_996916.1:p.Leu113=
NM_207034.2:c.337C>T NP_996917.1:p.Leu113=
XM_005260312.3:c.337C>T XP_005260369.1:p.Leu113=
XM_005260313.3:c.337C>T XP_005260370.1:p.Leu113=
XM_006723734.2:c.337C>T XP_006723797.1:p.Leu113=
XM_011528655.1:c.337C>T XP_011526957.1:p.Leu113=
XR_936513.1:n.726C>T
XM_005260312.4:c.337C>T XP_005260369.1:p.Leu113=
XM_005260313.5:c.337C>T XP_005260370.1:p.Leu113=
XM_006723734.3:c.337C>T XP_006723797.1:p.Leu113=
XM_011528655.2:c.337C>T XP_011526957.1:p.Leu113=
XM_024451847.1:c.337C>T XP_024307615.1:p.Leu113=
XM_024451848.1:c.337C>T XP_024307616.1:p.Leu113=
XR_002958461.1:n.735C>T
XR_002958462.1:n.735C>T
XR_936513.2:n.734C>T
NM_207034.3:c.337C>T MANE Select NP_996917.1:p.Leu113=
NM_001302455.2:c.337C>T NP_001289384.1:p.Leu113=
NM_001302456.2:c.337C>T NP_001289385.1:p.Leu113=
NM_207032.3:c.337C>T NP_996915.1:p.Leu113=
NM_207033.3:c.337C>T NP_996916.1:p.Leu113=