Canonical Allele Identifier: CA433896156
Gene: CACNA1D HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.53835303A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.53801276A>T , CM000665.2:g.53801276A>T GRCh38
NC_000003.11:g.53835303A>T , CM000665.1:g.53835303A>T GRCh37
NC_000003.10:g.53810343A>T NCBI36
NG_032999.1:g.311228A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000481478.2:c.5319A>T ENSP00000418014.2:p.Ser1773=
ENST00000636633.2:n.2258A>T
ENST00000636999.2:n.694A>T
ENST00000288139.11:c.5319A>T MANE Plus Clinical ENSP00000288139.3:p.Ser1773=
ENST00000350061.11:c.5259A>T MANE Select ENSP00000288133.5:p.Ser1753=
ENST00000422281.7:c.5214A>T ENSP00000409174.2:p.Ser1738=
ENST00000636448.1:c.1380A>T
ENST00000636570.1:c.5214A>T ENSP00000490183.1:p.Ser1738=
ENST00000636629.1:n.615A>T
ENST00000636633.1:n.2258A>T
ENST00000636999.1:n.686A>T
ENST00000637424.1:c.5286A>T ENSP00000489769.1:p.Ser1762=
ENST00000637844.1:n.13A>T
ENST00000288139.8:c.5319A>T ENSP00000288139.3:p.Ser1773=
ENST00000350061.9:c.5259A>T ENSP00000288133.5:p.Ser1753=
ENST00000422281.6:c.5214A>T ENSP00000409174.2:p.Ser1738=
ENST00000481478.1:c.4338A>T ENSP00000418014.1:p.Ser1446=
NM_000720.3:c.5319A>T NP_000711.1:p.Ser1773=
NM_001128839.2:c.5214A>T NP_001122311.1:p.Ser1738=
NM_001128840.2:c.5259A>T NP_001122312.1:p.Ser1753=
XM_005265448.2:c.5214A>T XP_005265505.1:p.Ser1738=
XM_011534094.1:c.5514A>T XP_011532396.1:p.Ser1838=
XM_011534095.1:c.5403A>T XP_011532397.1:p.Ser1801=
XM_011534096.1:c.5325A>T XP_011532398.1:p.Ser1775=
XM_011534097.1:c.4977A>T XP_011532399.1:p.Ser1659=
XM_011534098.1:c.4977A>T XP_011532400.1:p.Ser1659=
XM_011534099.1:c.4602A>T XP_011532401.1:p.Ser1534=
XM_011534100.1:c.5409A>T XP_011532402.1:p.Ser1803=
XM_005265448.3:c.5214A>T XP_005265505.1:p.Ser1738=
XM_011534094.2:c.5514A>T XP_011532396.1:p.Ser1838=
XM_011534096.2:c.5325A>T XP_011532398.1:p.Ser1775=
XM_011534097.2:c.4977A>T XP_011532399.1:p.Ser1659=
XM_011534099.2:c.4602A>T XP_011532401.1:p.Ser1534=
XM_011534100.2:c.5409A>T XP_011532402.1:p.Ser1803=
XM_017007137.1:c.5514A>T XP_016862626.1:p.Ser1838=
XM_017007138.1:c.5511A>T XP_016862627.1:p.Ser1837=
XM_017007139.1:c.5514A>T XP_016862628.1:p.Ser1838=
XM_017007140.1:c.5454A>T XP_016862629.1:p.Ser1818=
XM_017007141.1:c.5454A>T XP_016862630.1:p.Ser1818=
XM_017007142.1:c.5430A>T XP_016862631.1:p.Ser1810=
XM_017007143.1:c.5430A>T XP_016862632.1:p.Ser1810=
XM_017007144.1:c.5430A>T XP_016862633.1:p.Ser1810=
XM_017007145.1:c.5385A>T XP_016862634.1:p.Ser1795=
NM_001128840.3:c.5259A>T MANE Select NP_001122312.1:p.Ser1753=
NM_000720.4:c.5319A>T MANE Plus Clinical NP_000711.1:p.Ser1773=
NM_001128839.3:c.5214A>T NP_001122311.1:p.Ser1738=