Canonical Allele Identifier: CA1219578498
Gene: CACNA1S HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.201060512T= , CM000663.2:g.201060512T= GRCh38
NC_000001.10:g.201029640T= , CM000663.1:g.201029640T= GRCh37
NC_000001.9:g.199296263T= NCBI36
NG_009816.1:g.57055A=
NG_009816.2:g.57055A=

Transcript Alleles

HGVS Amino-acid change
ENST00000362061.4:c.3414+146A= MANE Select ENSP00000355192.3:n.3414+146A=
ENST00000679417.1:c.*2577+146A= ENSP00000506706.1:n.*2577+146A=
ENST00000680051.1:n.540+146A=
ENST00000680059.1:c.*932+146A= ENSP00000504944.1:n.*932+146A=
ENST00000681078.1:c.3414+146A= ENSP00000506645.1:n.3414+146A=
ENST00000681190.1:c.3414+146A= ENSP00000506428.1:n.3414+146A=
ENST00000681874.1:c.3354+146A= ENSP00000505162.1:n.3354+146A=
ENST00000362061.3:c.3414+146A= ENSP00000355192.3:n.3414+146A=
ENST00000367338.7:c.3414+146A= ENSP00000356307.3:n.3414+146A=
NM_000069.2:c.3414+146A= NP_000060.2:n.3414+146A=
XM_005245478.2:c.3414+146A= XP_005245535.1:n.3414+146A=
XM_005245478.3:c.3414+146A= XP_005245535.1:n.3414+146A=
NM_000069.3:c.3414+146A= MANE Select NP_000060.2:n.3414+146A=