Canonical Allele Identifier: CA367287974

Gene: CDK13

Linked Data

• dbSNP Id: rs2116317374
• gnomAD v4: 7-39999369-G-T
• MyVariant Identifiers: chr7:g.40038968G>T (hg19) ; chr7:g.39999369G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.39999369G>T , CM000669.2:g.39999369G>T	GRCh38
NC_000007.13:g.40038968G>T , CM000669.1:g.40038968G>T	GRCh37
NC_000007.12:g.40005493G>T	NCBI36
NG_052965.1:g.54010G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000181839.10:c.2051G>T MANE Select	ENSP00000181839.4:p.Gly684Val
ENST00000340829.10:c.2051G>T	ENSP00000340557.5:p.Gly684Val
ENST00000484589.2:c.603G>T
ENST00000642213.1:n.533G>T
ENST00000642660.1:n.931G>T
ENST00000643859.1:c.942G>T
ENST00000643915.1:c.365G>T	ENSP00000496187.1:p.Gly122Val
ENST00000646039.1:c.1391G>T	ENSP00000494168.1:p.Gly464Val
ENST00000646437.1:c.685G>T
ENST00000647453.1:n.1120G>T
ENST00000647518.1:n.3888G>T
ENST00000181839.8:c.2051G>T	ENSP00000181839.4:p.Gly684Val
ENST00000340829.9:c.2051G>T	ENSP00000340557.5:p.Gly684Val
ENST00000484589.1:n.603G>T
ENST00000611390.1:c.209G>T	ENSP00000484610.1:p.Gly70Val
ENST00000613626.4:c.209G>T	ENSP00000480835.1:p.Gly70Val
NM_003718.4:c.2051G>T	NP_003709.3:p.Gly684Val
NM_031267.3:c.2051G>T	NP_112557.2:p.Gly684Val
XM_011515597.1:c.2051G>T	XP_011513899.1:p.Gly684Val
XM_011515598.1:c.2051G>T	XP_011513900.1:p.Gly684Val
XM_011515597.3:c.2051G>T	XP_011513899.1:p.Gly684Val
XM_017012750.2:c.2051G>T	XP_016868239.1:p.Gly684Val
XM_017012751.2:c.2051G>T	XP_016868240.1:p.Gly684Val
NM_003718.5:c.2051G>T MANE Select	NP_003709.3:p.Gly684Val