Canonical Allele Identifier: CA1365346683
Gene: CACNA1D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.53495113T= , CM000665.2:g.53495113T= GRCh38
NC_000003.11:g.53529140T= , CM000665.1:g.53529140T= GRCh37
NC_000003.10:g.53504180T= NCBI36
NG_032999.1:g.5065T=

Transcript Alleles

HGVS Amino-acid Change
NM_001128840.3:c.-54T= MANE Select NP_001122312.1:n.-54T=
ENST00000350061.11:c.-54T= MANE Select ENSP00000288133.5:n.-54T=
NM_000720.4:c.-54T= MANE Plus Clinical NP_000711.1:n.-54T=
ENST00000288139.11:c.-54T= MANE Plus Clinical ENSP00000288139.3:n.-54T=
NM_000720.3:c.-54T= NP_000711.1:n.-54T=
NM_001128839.2:c.-54T= NP_001122311.1:n.-54T=
NM_001128839.3:c.-54T= NP_001122311.1:n.-54T=
NM_001128840.2:c.-54T= NP_001122312.1:n.-54T=
ENST00000288139.8:c.-54T= ENSP00000288139.3:n.-54T=
ENST00000350061.9:c.-54T= ENSP00000288133.5:n.-54T=
ENST00000481478.2:c.-54T= ENSP00000418014.2:n.-54T=
ENST00000636627.2:c.-54T= ENSP00000490889.2:n.-54T=
ENST00000636938.1:c.-54T= ENSP00000490039.1:n.-54T=
ENST00000637424.1:c.140-2039T= ENSP00000489769.1:n.140-2039T=
XM_005265448.2:c.-54T= XP_005265505.1:n.-54T=
XM_011534095.1:c.-54T= XP_011532397.1:n.-54T=