Canonical Allele Identifier: CA344142849

Gene: CACNA1S

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201047523A>G , CM000663.2:g.201047523A>G	GRCh38
NC_000001.10:g.201016651A>G , CM000663.1:g.201016651A>G	GRCh37
NC_000001.9:g.199283274A>G	NCBI36
NG_009816.1:g.70044T>C
NG_009816.2:g.70044T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000069.3:c.4543+2T>C MANE Select	NP_000060.2:n.4543+2T>C
ENST00000362061.4:c.4543+2T>C MANE Select	ENSP00000355192.3:n.4543+2T>C
NM_000069.2:c.4543+2T>C	NP_000060.2:n.4543+2T>C
ENST00000362061.3:c.4543+2T>C	ENSP00000355192.3:n.4543+2T>C
ENST00000367338.7:c.4486+2T>C	ENSP00000356307.3:n.4486+2T>C
ENST00000679417.1:c.*3706+2T>C	ENSP00000506706.1:n.*3706+2T>C
ENST00000680051.1:n.1669+2T>C
ENST00000680059.1:c.*2061+2T>C	ENSP00000504944.1:n.*2061+2T>C
ENST00000681078.1:c.*318+2T>C	ENSP00000506645.1:n.*318+2T>C
ENST00000681190.1:c.*725+2T>C	ENSP00000506428.1:n.*725+2T>C
ENST00000681874.1:c.4483+2T>C	ENSP00000505162.1:n.4483+2T>C
XM_005245478.2:c.4486+2T>C	XP_005245535.1:n.4486+2T>C
XM_005245478.3:c.4486+2T>C	XP_005245535.1:n.4486+2T>C