Canonical Allele Identifier: CA367287964

Gene: CDK13

Linked Data

• gnomAD v4: 7-39999366-G-A
• MyVariant Identifiers: chr7:g.40038965G>A (hg19) ; chr7:g.39999366G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.39999366G>A , CM000669.2:g.39999366G>A	GRCh38
NC_000007.13:g.40038965G>A , CM000669.1:g.40038965G>A	GRCh37
NC_000007.12:g.40005490G>A	NCBI36
NG_052965.1:g.54007G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000181839.10:c.2048G>A MANE Select	ENSP00000181839.4:p.Cys683Tyr
ENST00000340829.10:c.2048G>A	ENSP00000340557.5:p.Cys683Tyr
ENST00000484589.2:c.600G>A
ENST00000642213.1:n.530G>A
ENST00000642660.1:n.928G>A
ENST00000643859.1:c.939G>A
ENST00000643915.1:c.362G>A	ENSP00000496187.1:p.Cys121Tyr
ENST00000646039.1:c.1388G>A	ENSP00000494168.1:p.Cys463Tyr
ENST00000646437.1:c.682G>A
ENST00000647453.1:n.1117G>A
ENST00000647518.1:n.3885G>A
ENST00000181839.8:c.2048G>A	ENSP00000181839.4:p.Cys683Tyr
ENST00000340829.9:c.2048G>A	ENSP00000340557.5:p.Cys683Tyr
ENST00000484589.1:n.600G>A
ENST00000611390.1:c.206G>A	ENSP00000484610.1:p.Cys69Tyr
ENST00000613626.4:c.206G>A	ENSP00000480835.1:p.Cys69Tyr
NM_003718.4:c.2048G>A	NP_003709.3:p.Cys683Tyr
NM_031267.3:c.2048G>A	NP_112557.2:p.Cys683Tyr
XM_011515597.1:c.2048G>A	XP_011513899.1:p.Cys683Tyr
XM_011515598.1:c.2048G>A	XP_011513900.1:p.Cys683Tyr
XM_011515597.3:c.2048G>A	XP_011513899.1:p.Cys683Tyr
XM_017012750.2:c.2048G>A	XP_016868239.1:p.Cys683Tyr
XM_017012751.2:c.2048G>A	XP_016868240.1:p.Cys683Tyr
NM_003718.5:c.2048G>A MANE Select	NP_003709.3:p.Cys683Tyr