Canonical Allele Identifier: CA454723971

Gene: CDK13

Linked Data

• dbSNP Id: rs1784635453
• gnomAD v3: 7-39999379-T-C
• gnomAD v4: 7-39999379-T-C
• MyVariant Identifiers: chr7:g.40038978T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.39999379T>C , CM000669.2:g.39999379T>C	GRCh38
NC_000007.13:g.40038978T>C , CM000669.1:g.40038978T>C	GRCh37
NC_000007.12:g.40005503T>C	NCBI36
NG_052965.1:g.54020T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000181839.10:c.2061T>C MANE Select	ENSP00000181839.4:p.Tyr687=
ENST00000340829.10:c.2061T>C	ENSP00000340557.5:p.Tyr687=
ENST00000484589.2:c.613T>C
ENST00000642213.1:n.543T>C
ENST00000642660.1:n.941T>C
ENST00000643859.1:c.952T>C
ENST00000643915.1:c.375T>C	ENSP00000496187.1:p.Tyr125=
ENST00000646039.1:c.1401T>C	ENSP00000494168.1:p.Tyr467=
ENST00000646437.1:c.695T>C
ENST00000647453.1:n.1130T>C
ENST00000647518.1:n.3898T>C
ENST00000181839.8:c.2061T>C	ENSP00000181839.4:p.Tyr687=
ENST00000340829.9:c.2061T>C	ENSP00000340557.5:p.Tyr687=
ENST00000484589.1:n.613T>C
ENST00000611390.1:c.219T>C	ENSP00000484610.1:p.Tyr73=
ENST00000613626.4:c.219T>C	ENSP00000480835.1:p.Tyr73=
NM_003718.4:c.2061T>C	NP_003709.3:p.Tyr687=
NM_031267.3:c.2061T>C	NP_112557.2:p.Tyr687=
XM_011515597.1:c.2061T>C	XP_011513899.1:p.Tyr687=
XM_011515598.1:c.2061T>C	XP_011513900.1:p.Tyr687=
XM_011515597.3:c.2061T>C	XP_011513899.1:p.Tyr687=
XM_017012750.2:c.2061T>C	XP_016868239.1:p.Tyr687=
XM_017012751.2:c.2061T>C	XP_016868240.1:p.Tyr687=
NM_003718.5:c.2061T>C MANE Select	NP_003709.3:p.Tyr687=