Canonical Allele Identifier: CA157254293

Gene: CDK13

Linked Data

• dbSNP Id: rs1057000
• gnomAD v4: 7-39999417-G-A
• COSMIC: COSM1089538
• MyVariant Identifiers: chr7:g.40039016G>A (hg19) ; chr7:g.39999417G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.39999417G>A , CM000669.2:g.39999417G>A	GRCh38
NC_000007.13:g.40039016G>A , CM000669.1:g.40039016G>A	GRCh37
NC_000007.12:g.40005541G>A	NCBI36
NG_052965.1:g.54058G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000181839.10:c.2099G>A MANE Select	ENSP00000181839.4:p.Arg700His
ENST00000340829.10:c.2099G>A	ENSP00000340557.5:p.Arg700His
ENST00000484589.2:c.651G>A
ENST00000642213.1:n.581G>A
ENST00000643859.1:c.990G>A
ENST00000643915.1:c.413G>A	ENSP00000496187.1:p.Arg138His
ENST00000645470.1:c.29G>A	ENSP00000495036.1:p.Arg10His
ENST00000646039.1:c.1439G>A	ENSP00000494168.1:p.Arg480His
ENST00000646437.1:c.733G>A
ENST00000647453.1:n.1168G>A
ENST00000647518.1:n.3936G>A
ENST00000181839.8:c.2099G>A	ENSP00000181839.4:p.Arg700His
ENST00000340829.9:c.2099G>A	ENSP00000340557.5:p.Arg700His
ENST00000484589.1:n.651G>A
ENST00000611390.1:c.257G>A	ENSP00000484610.1:p.Arg86His
ENST00000613626.4:c.257G>A	ENSP00000480835.1:p.Arg86His
NM_003718.4:c.2099G>A	NP_003709.3:p.Arg700His
NM_031267.3:c.2099G>A	NP_112557.2:p.Arg700His
XM_011515597.1:c.2099G>A	XP_011513899.1:p.Arg700His
XM_011515598.1:c.2099G>A	XP_011513900.1:p.Arg700His
XM_011515597.3:c.2099G>A	XP_011513899.1:p.Arg700His
XM_017012750.2:c.2099G>A	XP_016868239.1:p.Arg700His
XM_017012751.2:c.2099G>A	XP_016868240.1:p.Arg700His
NM_003718.5:c.2099G>A MANE Select	NP_003709.3:p.Arg700His