Canonical Allele Identifier: CA4228952
Community Standard Title: NM_003718.5(CDK13):c.3502C>T (p.Pro1168Ser)
Gene: CDK13 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.40093051C>T , CM000669.2:g.40093051C>T GRCh38
NC_000007.13:g.40132650C>T , CM000669.1:g.40132650C>T GRCh37
NC_000007.12:g.40099175C>T NCBI36
NG_052965.1:g.147692C>T

Transcript Alleles

HGVS Amino-acid Change
NM_003718.5:c.3502C>T MANE Select NP_003709.3:p.Pro1168Ser
ENST00000181839.10:c.3502C>T MANE Select ENSP00000181839.4:p.Pro1168Ser
NM_003718.4:c.3502C>T NP_003709.3:p.Pro1168Ser
NM_031267.3:c.3322C>T NP_112557.2:p.Pro1108Ser
ENST00000181839.8:c.3502C>T ENSP00000181839.4:p.Pro1168Ser
ENST00000340829.10:c.3322C>T ENSP00000340557.5:p.Pro1108Ser
ENST00000340829.9:c.3322C>T ENSP00000340557.5:p.Pro1108Ser
ENST00000465643.1:n.805C>T
ENST00000478563.2:n.787C>T
ENST00000643859.1:c.2261C>T
ENST00000643915.1:c.1711C>T ENSP00000496187.1:p.Pro571Ser
ENST00000644221.1:n.2908C>T
ENST00000644561.1:n.1037C>T
ENST00000645826.1:n.731C>T
ENST00000646039.1:c.2890C>T ENSP00000494168.1:p.Pro964Ser
ENST00000700485.1:n.1058C>T
ENST00000700486.1:n.1276C>T
ENST00000700487.1:n.1244C>T
XM_017012750.2:c.3592C>T XP_016868239.1:p.Pro1198Ser
XM_017012751.2:c.3412C>T XP_016868240.1:p.Pro1138Ser