Canonical Allele Identifier: CA367293273
Community Standard Title: NM_003718.5(CDK13):c.3125C>G (p.Ala1042Gly)
Gene: CDK13 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.40088221C>G , CM000669.2:g.40088221C>G GRCh38
NC_000007.13:g.40127820C>G , CM000669.1:g.40127820C>G GRCh37
NC_000007.12:g.40094345C>G NCBI36
NG_052965.1:g.142862C>G

Transcript Alleles

HGVS Amino-acid Change
NM_003718.5:c.3125C>G MANE Select NP_003709.3:p.Ala1042Gly
ENST00000181839.10:c.3125C>G MANE Select ENSP00000181839.4:p.Ala1042Gly
NM_003718.4:c.3125C>G NP_003709.3:p.Ala1042Gly
NM_031267.3:c.3125C>G NP_112557.2:p.Ala1042Gly
ENST00000181839.8:c.3125C>G ENSP00000181839.4:p.Ala1042Gly
ENST00000340829.10:c.3125C>G ENSP00000340557.5:p.Ala1042Gly
ENST00000340829.9:c.3125C>G ENSP00000340557.5:p.Ala1042Gly
ENST00000478563.1:n.534C>G
ENST00000478563.2:n.590C>G
ENST00000611390.1:c.*25C>G ENSP00000484610.1:n.*25C>G
ENST00000643859.1:c.2064C>G
ENST00000643915.1:c.1514C>G ENSP00000496187.1:p.Ala505Gly
ENST00000644221.1:n.2531C>G
ENST00000644561.1:n.840C>G
ENST00000645826.1:n.534C>G
ENST00000646039.1:c.2513C>G ENSP00000494168.1:p.Ala838Gly
ENST00000700485.1:n.861C>G
ENST00000700486.1:n.899C>G
ENST00000700487.1:n.867C>G
XM_017012750.2:c.3215C>G XP_016868239.1:p.Ala1072Gly
XM_017012751.2:c.3215C>G XP_016868240.1:p.Ala1072Gly