Canonical Allele Identifier: CA367280374

Gene: CDK13

Linked Data

• ClinVar Variation Id: 522794
• ClinVar RCV Id: RCV000625958 ; RCV001383184
• dbSNP Id: rs1554333853
• MyVariant Identifiers: chr7:g.40085605A>G (hg19) ; chr7:g.40046006A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.40046006A>G , CM000669.2:g.40046006A>G	GRCh38
NC_000007.13:g.40085605A>G , CM000669.1:g.40085605A>G	GRCh37
NC_000007.12:g.40052130A>G	NCBI36
NG_052965.1:g.100647A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700485.1:n.260A>G
ENST00000700486.1:n.298A>G
ENST00000700487.1:n.266A>G
ENST00000181839.10:c.2524A>G MANE Select	ENSP00000181839.4:p.Asn842Asp
ENST00000340829.10:c.2524A>G	ENSP00000340557.5:p.Asn842Asp
ENST00000484589.2:c.1076A>G
ENST00000642592.1:c.77A>G
ENST00000643859.1:c.1415A>G
ENST00000643915.1:c.838A>G	ENSP00000496187.1:p.Asn280Asp
ENST00000645470.1:c.454A>G	ENSP00000495036.1:p.Asn152Asp
ENST00000646039.1:c.1864A>G	ENSP00000494168.1:p.Asn622Asp
ENST00000647453.1:n.1593A>G
ENST00000181839.8:c.2524A>G	ENSP00000181839.4:p.Asn842Asp
ENST00000340829.9:c.2524A>G	ENSP00000340557.5:p.Asn842Asp
ENST00000484589.1:n.1076A>G
ENST00000611390.1:c.682A>G	ENSP00000484610.1:p.Asn228Asp
ENST00000613626.4:c.682A>G	ENSP00000480835.1:p.Asn228Asp
NM_003718.4:c.2524A>G	NP_003709.3:p.Asn842Asp
NM_031267.3:c.2524A>G	NP_112557.2:p.Asn842Asp
XM_011515597.1:c.2524A>G	XP_011513899.1:p.Asn842Asp
XM_011515598.1:c.2524A>G	XP_011513900.1:p.Asn842Asp
XM_011515597.3:c.2524A>G	XP_011513899.1:p.Asn842Asp
XM_017012750.2:c.2524A>G	XP_016868239.1:p.Asn842Asp
XM_017012751.2:c.2524A>G	XP_016868240.1:p.Asn842Asp
NM_003718.5:c.2524A>G MANE Select	NP_003709.3:p.Asn842Asp