Canonical Allele Identifier: CA367288374

Gene: CDK13

Linked Data

• dbSNP Id: rs151007323
• gnomAD v3: 7-39999466-C-A
• gnomAD v4: 7-39999466-C-A
• MyVariant Identifiers: chr7:g.40039065C>A (hg19) ; chr7:g.39999466C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.39999466C>A , CM000669.2:g.39999466C>A	GRCh38
NC_000007.13:g.40039065C>A , CM000669.1:g.40039065C>A	GRCh37
NC_000007.12:g.40005590C>A	NCBI36
NG_052965.1:g.54107C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000181839.10:c.2148C>A MANE Select	ENSP00000181839.4:p.Tyr716Ter
ENST00000340829.10:c.2148C>A	ENSP00000340557.5:p.Tyr716Ter
ENST00000484589.2:c.700C>A
ENST00000642213.1:n.630C>A
ENST00000643859.1:c.1039C>A
ENST00000643915.1:c.462C>A	ENSP00000496187.1:p.Tyr154Ter
ENST00000645470.1:c.78C>A	ENSP00000495036.1:p.Tyr26Ter
ENST00000646039.1:c.1488C>A	ENSP00000494168.1:p.Tyr496Ter
ENST00000647453.1:n.1217C>A
ENST00000647518.1:n.3985C>A
ENST00000181839.8:c.2148C>A	ENSP00000181839.4:p.Tyr716Ter
ENST00000340829.9:c.2148C>A	ENSP00000340557.5:p.Tyr716Ter
ENST00000484589.1:n.700C>A
ENST00000611390.1:c.306C>A	ENSP00000484610.1:p.Tyr102Ter
ENST00000613626.4:c.306C>A	ENSP00000480835.1:p.Tyr102Ter
NM_003718.4:c.2148C>A	NP_003709.3:p.Tyr716Ter
NM_031267.3:c.2148C>A	NP_112557.2:p.Tyr716Ter
XM_011515597.1:c.2148C>A	XP_011513899.1:p.Tyr716Ter
XM_011515598.1:c.2148C>A	XP_011513900.1:p.Tyr716Ter
XM_011515597.3:c.2148C>A	XP_011513899.1:p.Tyr716Ter
XM_017012750.2:c.2148C>A	XP_016868239.1:p.Tyr716Ter
XM_017012751.2:c.2148C>A	XP_016868240.1:p.Tyr716Ter
NM_003718.5:c.2148C>A MANE Select	NP_003709.3:p.Tyr716Ter