Canonical Allele Identifier: CA16044432
Gene: CDK13 HGNC NCBI

Linked Data

ClinVar Variation Id: 375737
ClinVar RCV Id: RCV000417213 RCV000489190 RCV000622659 RCV001527382
dbSNP Id: rs1057519632
gnomAD v4: 7-39999467-G-A
MyVariant Identifiers: chr7:g.40039066G>A (hg19) chr7:g.39999467G>A (hg38)
PubMed: PMID:19344873 PMID:24999027 PMID:25560765 PMID:26539891 PMID:27479907 PMID:28135719 PMID:28807008 PMID:29021403 PMID:29222009
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.39999467G>A , CM000669.2:g.39999467G>A GRCh38
NC_000007.13:g.40039066G>A , CM000669.1:g.40039066G>A GRCh37
NC_000007.12:g.40005591G>A NCBI36
NG_052965.1:g.54108G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000181839.10:c.2149G>A MANE Select ENSP00000181839.4:p.Gly717Arg
ENST00000340829.10:c.2149G>A ENSP00000340557.5:p.Gly717Arg
ENST00000484589.2:c.701G>A
ENST00000642213.1:n.631G>A
ENST00000643859.1:c.1040G>A
ENST00000643915.1:c.463G>A ENSP00000496187.1:p.Gly155Arg
ENST00000645470.1:c.79G>A ENSP00000495036.1:p.Gly27Arg
ENST00000646039.1:c.1489G>A ENSP00000494168.1:p.Gly497Arg
ENST00000647453.1:n.1218G>A
ENST00000647518.1:n.3986G>A
ENST00000181839.8:c.2149G>A ENSP00000181839.4:p.Gly717Arg
ENST00000340829.9:c.2149G>A ENSP00000340557.5:p.Gly717Arg
ENST00000484589.1:n.701G>A
ENST00000611390.1:c.307G>A ENSP00000484610.1:p.Gly103Arg
ENST00000613626.4:c.307G>A ENSP00000480835.1:p.Gly103Arg
NM_003718.4:c.2149G>A NP_003709.3:p.Gly717Arg
NM_031267.3:c.2149G>A NP_112557.2:p.Gly717Arg
XM_011515597.1:c.2149G>A XP_011513899.1:p.Gly717Arg
XM_011515598.1:c.2149G>A XP_011513900.1:p.Gly717Arg
XM_011515597.3:c.2149G>A XP_011513899.1:p.Gly717Arg
XM_017012750.2:c.2149G>A XP_016868239.1:p.Gly717Arg
XM_017012751.2:c.2149G>A XP_016868240.1:p.Gly717Arg
NM_003718.5:c.2149G>A MANE Select NP_003709.3:p.Gly717Arg
Search 100 bp 5'
Search 100 bp 3'