Canonical Allele Identifier: CA1100470799

Gene: CDK13

Linked Data

• dbSNP Id: rs1784641578
• gnomAD v3: 7-39999617-T-C
• gnomAD v4: 7-39999617-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.39999617T>C , CM000669.2:g.39999617T>C	GRCh38
NC_000007.13:g.40039216T>C , CM000669.1:g.40039216T>C	GRCh37
NC_000007.12:g.40005741T>C	NCBI36
NG_052965.1:g.54258T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000181839.10:c.2182+117T>C MANE Select	ENSP00000181839.4:n.2182+117T>C
ENST00000340829.10:c.2182+117T>C	ENSP00000340557.5:n.2182+117T>C
ENST00000484589.2:c.734+117T>C
ENST00000642213.1:n.664+117T>C
ENST00000643859.1:c.1073+117T>C
ENST00000643915.1:c.496+117T>C	ENSP00000496187.1:n.496+117T>C
ENST00000645470.1:c.112+117T>C	ENSP00000495036.1:n.112+117T>C
ENST00000646039.1:c.1522+117T>C	ENSP00000494168.1:n.1522+117T>C
ENST00000647453.1:n.1251+117T>C
ENST00000647518.1:n.4019+117T>C
ENST00000181839.8:c.2182+117T>C	ENSP00000181839.4:n.2182+117T>C
ENST00000340829.9:c.2182+117T>C	ENSP00000340557.5:n.2182+117T>C
ENST00000484589.1:n.734+117T>C
ENST00000611390.1:c.340+117T>C	ENSP00000484610.1:n.340+117T>C
ENST00000613626.4:c.340+117T>C	ENSP00000480835.1:n.340+117T>C
NM_003718.4:c.2182+117T>C	NP_003709.3:n.2182+117T>C
NM_031267.3:c.2182+117T>C	NP_112557.2:n.2182+117T>C
XM_011515597.1:c.2182+117T>C	XP_011513899.1:n.2182+117T>C
XM_011515598.1:c.2182+117T>C	XP_011513900.1:n.2182+117T>C
XM_011515597.3:c.2182+117T>C	XP_011513899.1:n.2182+117T>C
XM_017012750.2:c.2182+117T>C	XP_016868239.1:n.2182+117T>C
XM_017012751.2:c.2182+117T>C	XP_016868240.1:n.2182+117T>C
NM_003718.5:c.2182+117T>C MANE Select	NP_003709.3:n.2182+117T>C