Canonical Allele Identifier: CA1219577514
Gene: CACNA1S HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.201058205A= , CM000663.2:g.201058205A= GRCh38
NC_000001.10:g.201027333A= , CM000663.1:g.201027333A= GRCh37
NC_000001.9:g.199293956A= NCBI36
NG_009816.1:g.59362T=
NG_009816.2:g.59362T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000362061.4:c.3609+203T= MANE Select ENSP00000355192.3:n.3609+203T=
ENST00000679417.1:c.*2772+203T= ENSP00000506706.1:n.*2772+203T=
ENST00000680051.1:n.735+203T=
ENST00000680059.1:c.*1127+203T= ENSP00000504944.1:n.*1127+203T=
ENST00000681078.1:c.3609+203T= ENSP00000506645.1:n.3609+203T=
ENST00000681190.1:c.3609+203T= ENSP00000506428.1:n.3609+203T=
ENST00000681874.1:c.3549+203T= ENSP00000505162.1:n.3549+203T=
ENST00000362061.3:c.3609+203T= ENSP00000355192.3:n.3609+203T=
ENST00000367338.7:c.3609+203T= ENSP00000356307.3:n.3609+203T=
NM_000069.2:c.3609+203T= NP_000060.2:n.3609+203T=
XM_005245478.2:c.3609+203T= XP_005245535.1:n.3609+203T=
XM_005245478.3:c.3609+203T= XP_005245535.1:n.3609+203T=
NM_000069.3:c.3609+203T= MANE Select NP_000060.2:n.3609+203T=