Canonical Allele Identifier: CA4228708

Gene: CDK13

Linked Data

• dbSNP Id: rs761081928
• ExAC: 7:40085514 A / C
• gnomAD v2: 7-40085514-A-C
• gnomAD v4: 7-40045915-A-C
• MyVariant Identifiers: chr7:g.40085514A>C (hg19) ; chr7:g.40045915A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.40045915A>C , CM000669.2:g.40045915A>C	GRCh38
NC_000007.13:g.40085514A>C , CM000669.1:g.40085514A>C	GRCh37
NC_000007.12:g.40052039A>C	NCBI36
NG_052965.1:g.100556A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700485.1:n.169A>C
ENST00000700486.1:n.207A>C
ENST00000700487.1:n.175A>C
ENST00000181839.10:c.2433A>C MANE Select	ENSP00000181839.4:p.Glu811Asp
ENST00000340829.10:c.2433A>C	ENSP00000340557.5:p.Glu811Asp
ENST00000484589.2:c.985A>C
ENST00000643859.1:c.1324A>C
ENST00000643915.1:c.747A>C	ENSP00000496187.1:p.Glu249Asp
ENST00000645470.1:c.363A>C	ENSP00000495036.1:p.Glu121Asp
ENST00000646039.1:c.1773A>C	ENSP00000494168.1:p.Glu591Asp
ENST00000647453.1:n.1502A>C
ENST00000181839.8:c.2433A>C	ENSP00000181839.4:p.Glu811Asp
ENST00000340829.9:c.2433A>C	ENSP00000340557.5:p.Glu811Asp
ENST00000484589.1:n.985A>C
ENST00000611390.1:c.591A>C	ENSP00000484610.1:p.Glu197Asp
ENST00000613626.4:c.591A>C	ENSP00000480835.1:p.Glu197Asp
NM_003718.4:c.2433A>C	NP_003709.3:p.Glu811Asp
NM_031267.3:c.2433A>C	NP_112557.2:p.Glu811Asp
XM_011515597.1:c.2433A>C	XP_011513899.1:p.Glu811Asp
XM_011515598.1:c.2433A>C	XP_011513900.1:p.Glu811Asp
XM_011515597.3:c.2433A>C	XP_011513899.1:p.Glu811Asp
XM_017012750.2:c.2433A>C	XP_016868239.1:p.Glu811Asp
XM_017012751.2:c.2433A>C	XP_016868240.1:p.Glu811Asp
NM_003718.5:c.2433A>C MANE Select	NP_003709.3:p.Glu811Asp