Canonical Allele Identifier: CA2372715080
Community Standard Title: NM_207034.3(EDN3):c.670G= (p.Ala224=)
Gene: EDN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.59324412G= , CM000682.2:g.59324412G= GRCh38
NC_000020.10:g.57899467G= , CM000682.1:g.57899467G= GRCh37
NC_000020.9:g.57332862G= NCBI36
NG_008050.1:g.28969G=

Transcript Alleles

HGVS Amino-acid Change
NM_207034.3:c.670G= MANE Select NP_996917.1:p.Ala224=
ENST00000337938.7:c.670G= MANE Select ENSP00000337128.2:p.Ala224=
NM_001302455.1:c.*77G= NP_001289384.1:n.*77G=
NM_001302455.2:c.*77G= NP_001289384.1:n.*77G=
NM_001302456.1:c.*45G= NP_001289385.1:n.*45G=
NM_001302456.2:c.*45G= NP_001289385.1:n.*45G=
NM_207032.2:c.*45G= NP_996915.1:n.*45G=
NM_207032.3:c.*45G= NP_996915.1:n.*45G=
NM_207033.2:c.628G= NP_996916.1:p.Ala210=
NM_207033.3:c.628G= NP_996916.1:p.Ala210=
NM_207034.2:c.670G= NP_996917.1:p.Ala224=
ENST00000311585.11:c.*45G= ENSP00000311854.7:n.*45G=
ENST00000337938.6:c.670G= ENSP00000337128.2:p.Ala224=
ENST00000371025.7:c.*45G= ENSP00000360064.3:n.*45G=
ENST00000371028.6:c.670G= ENSP00000360067.2:p.Ala224=
ENST00000395654.3:c.628G= ENSP00000379015.3:p.Ala210=
ENST00000644821.1:c.*131G= ENSP00000493472.1:n.*131G=
ENST00000671744.1:n.1311G=
ENST00000672969.1:c.572G=
XM_005260312.3:c.709G= XP_005260369.1:p.Ala237=
XM_005260312.4:c.709G= XP_005260369.1:p.Ala237=
XM_005260313.3:c.*45G= XP_005260370.1:n.*45G=
XM_005260313.5:c.*45G= XP_005260370.1:n.*45G=
XM_006723734.2:c.*108G= XP_006723797.1:n.*108G=
XM_006723734.3:c.*108G= XP_006723797.1:n.*108G=
XM_011528655.1:c.688G= XP_011526957.1:p.Ala230=
XM_011528655.2:c.688G= XP_011526957.1:p.Ala230=
XM_024451847.1:c.*113G= XP_024307615.1:n.*113G=
XM_024451848.1:c.*117G= XP_024307616.1:n.*117G=
XR_002958461.1:n.1147G=
XR_002958462.1:n.1175G=
XR_936513.1:n.1152G=
XR_936513.2:n.1160G=