Canonical Allele Identifier: CA367297112
Community Standard Title: NM_003718.5(CDK13):c.4403A>G (p.Glu1468Gly)
Gene: CDK13 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.40094844A>G , CM000669.2:g.40094844A>G GRCh38
NC_000007.13:g.40134443A>G , CM000669.1:g.40134443A>G GRCh37
NC_000007.12:g.40100968A>G NCBI36
NG_052965.1:g.149485A>G

Transcript Alleles

HGVS Amino-acid Change
NM_003718.5:c.4403A>G MANE Select NP_003709.3:p.Glu1468Gly
ENST00000181839.10:c.4403A>G MANE Select ENSP00000181839.4:p.Glu1468Gly
NM_003718.4:c.4403A>G NP_003709.3:p.Glu1468Gly
NM_031267.3:c.4223A>G NP_112557.2:p.Glu1408Gly
ENST00000181839.8:c.4403A>G ENSP00000181839.4:p.Glu1468Gly
ENST00000340829.10:c.4223A>G ENSP00000340557.5:p.Glu1408Gly
ENST00000340829.9:c.4223A>G ENSP00000340557.5:p.Glu1408Gly
ENST00000465643.1:n.1706A>G
ENST00000643859.1:c.3162A>G
ENST00000643915.1:c.2612A>G ENSP00000496187.1:p.Glu871Gly
ENST00000644221.1:n.3809A>G
ENST00000644561.1:n.1938A>G
ENST00000645826.1:n.1632A>G
ENST00000646039.1:c.3791A>G ENSP00000494168.1:p.Glu1264Gly
ENST00000700485.1:n.1959A>G
ENST00000700486.1:n.2177A>G
ENST00000700487.1:n.2145A>G
XM_017012750.2:c.4493A>G XP_016868239.1:p.Glu1498Gly
XM_017012751.2:c.4313A>G XP_016868240.1:p.Glu1438Gly