Canonical Allele Identifier: CA231592291

Gene: CACNA2D4

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.1918321C>T , CM000674.2:g.1918321C>T	GRCh38
NC_000012.11:g.2027487C>T , CM000674.1:g.2027487C>T	GRCh37
NC_000012.10:g.1897748C>T	NCBI36
NG_012663.1:g.5384G>A
NG_012663.2:g.5384G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_172364.5:c.153G>A MANE Select	NP_758952.4:p.Ser51=
ENST00000382722.10:c.153G>A MANE Select	ENSP00000372169.4:p.Ser51=
NM_172364.4:c.153G>A	NP_758952.4:p.Ser51=
ENST00000280663.12:n.346G>A
ENST00000382722.9:c.153G>A	ENSP00000372169.4:p.Ser51=
ENST00000444595.6:c.153G>A	ENSP00000403371.2:p.Ser51=
ENST00000585732.1:c.153G>A	ENSP00000468080.1:p.Ser51=
ENST00000586184.5:c.153G>A	ENSP00000465060.1:p.Ser51=
ENST00000587995.5:c.153G>A	ENSP00000465372.1:p.Ser51=
XM_011521041.1:c.153G>A	XP_011519343.1:p.Ser51=
XM_011521041.2:c.153G>A	XP_011519343.1:p.Ser51=
XR_002957441.1:n.1849+292C>T
XR_931529.1:n.2545G>A
XR_931530.1:n.2545G>A
XR_931531.1:n.2545G>A