Canonical Allele Identifier: CA4228636

Gene: CDK13

Linked Data

• dbSNP Id: rs180910129
• ExAC: 7:40039013 A / G
• gnomAD v2: 7-40039013-A-G
• gnomAD v3: 7-39999414-A-G
• gnomAD v4: 7-39999414-A-G
• MyVariant Identifiers: chr7:g.40039013A>G (hg19) ; chr7:g.39999414A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.39999414A>G , CM000669.2:g.39999414A>G	GRCh38
NC_000007.13:g.40039013A>G , CM000669.1:g.40039013A>G	GRCh37
NC_000007.12:g.40005538A>G	NCBI36
NG_052965.1:g.54055A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000181839.10:c.2096A>G MANE Select	ENSP00000181839.4:p.Lys699Arg
ENST00000340829.10:c.2096A>G	ENSP00000340557.5:p.Lys699Arg
ENST00000484589.2:c.648A>G
ENST00000642213.1:n.578A>G
ENST00000643859.1:c.987A>G
ENST00000643915.1:c.410A>G	ENSP00000496187.1:p.Lys137Arg
ENST00000645470.1:c.26A>G	ENSP00000495036.1:p.Lys9Arg
ENST00000646039.1:c.1436A>G	ENSP00000494168.1:p.Lys479Arg
ENST00000646437.1:c.730A>G
ENST00000647453.1:n.1165A>G
ENST00000647518.1:n.3933A>G
ENST00000181839.8:c.2096A>G	ENSP00000181839.4:p.Lys699Arg
ENST00000340829.9:c.2096A>G	ENSP00000340557.5:p.Lys699Arg
ENST00000484589.1:n.648A>G
ENST00000611390.1:c.254A>G	ENSP00000484610.1:p.Lys85Arg
ENST00000613626.4:c.254A>G	ENSP00000480835.1:p.Lys85Arg
NM_003718.4:c.2096A>G	NP_003709.3:p.Lys699Arg
NM_031267.3:c.2096A>G	NP_112557.2:p.Lys699Arg
XM_011515597.1:c.2096A>G	XP_011513899.1:p.Lys699Arg
XM_011515598.1:c.2096A>G	XP_011513900.1:p.Lys699Arg
XM_011515597.3:c.2096A>G	XP_011513899.1:p.Lys699Arg
XM_017012750.2:c.2096A>G	XP_016868239.1:p.Lys699Arg
XM_017012751.2:c.2096A>G	XP_016868240.1:p.Lys699Arg
NM_003718.5:c.2096A>G MANE Select	NP_003709.3:p.Lys699Arg