Canonical Allele Identifier: CA367288023

Gene: CDK13

Linked Data

• MyVariant Identifiers: chr7:g.40038992A>C (hg19) ; chr7:g.39999393A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.39999393A>C , CM000669.2:g.39999393A>C	GRCh38
NC_000007.13:g.40038992A>C , CM000669.1:g.40038992A>C	GRCh37
NC_000007.12:g.40005517A>C	NCBI36
NG_052965.1:g.54034A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000181839.10:c.2075A>C MANE Select	ENSP00000181839.4:p.Glu692Ala
ENST00000340829.10:c.2075A>C	ENSP00000340557.5:p.Glu692Ala
ENST00000484589.2:c.627A>C
ENST00000642213.1:n.557A>C
ENST00000643859.1:c.966A>C
ENST00000643915.1:c.389A>C	ENSP00000496187.1:p.Glu130Ala
ENST00000645470.1:c.5A>C	ENSP00000495036.1:p.Glu2Ala
ENST00000646039.1:c.1415A>C	ENSP00000494168.1:p.Glu472Ala
ENST00000646437.1:c.709A>C
ENST00000647453.1:n.1144A>C
ENST00000647518.1:n.3912A>C
ENST00000181839.8:c.2075A>C	ENSP00000181839.4:p.Glu692Ala
ENST00000340829.9:c.2075A>C	ENSP00000340557.5:p.Glu692Ala
ENST00000484589.1:n.627A>C
ENST00000611390.1:c.233A>C	ENSP00000484610.1:p.Glu78Ala
ENST00000613626.4:c.233A>C	ENSP00000480835.1:p.Glu78Ala
NM_003718.4:c.2075A>C	NP_003709.3:p.Glu692Ala
NM_031267.3:c.2075A>C	NP_112557.2:p.Glu692Ala
XM_011515597.1:c.2075A>C	XP_011513899.1:p.Glu692Ala
XM_011515598.1:c.2075A>C	XP_011513900.1:p.Glu692Ala
XM_011515597.3:c.2075A>C	XP_011513899.1:p.Glu692Ala
XM_017012750.2:c.2075A>C	XP_016868239.1:p.Glu692Ala
XM_017012751.2:c.2075A>C	XP_016868240.1:p.Glu692Ala
NM_003718.5:c.2075A>C MANE Select	NP_003709.3:p.Glu692Ala