Canonical Allele Identifier: CA1219574456
Gene: CACNA1S HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.201075530C= , CM000663.2:g.201075530C= GRCh38
NC_000001.10:g.201044658C= , CM000663.1:g.201044658C= GRCh37
NC_000001.9:g.199311281C= NCBI36
NG_009816.1:g.42037G=
NG_009816.2:g.42037G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000362061.4:c.1913G= MANE Select ENSP00000355192.3:p.Cys638=
ENST00000679417.1:c.*1076G= ENSP00000506706.1:n.*1076G=
ENST00000680059.1:c.1913G= ENSP00000504944.1:p.Cys638=
ENST00000681078.1:c.1913G= ENSP00000506645.1:p.Cys638=
ENST00000681190.1:c.1913G= ENSP00000506428.1:p.Cys638=
ENST00000681874.1:c.1913G= ENSP00000505162.1:p.Cys638=
ENST00000362061.3:c.1913G= ENSP00000355192.3:p.Cys638=
ENST00000367338.7:c.1913G= ENSP00000356307.3:p.Cys638=
NM_000069.2:c.1913G= NP_000060.2:p.Cys638=
XM_005245478.2:c.1913G= XP_005245535.1:p.Cys638=
XM_005245478.3:c.1913G= XP_005245535.1:p.Cys638=
NM_000069.3:c.1913G= MANE Select NP_000060.2:p.Cys638=