Canonical Allele Identifier: CA157707130
Community Standard Title: NM_003718.5(CDK13):c.218C>T (p.Ala73Val)
Gene: CDK13 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.39950859C>T , CM000669.2:g.39950859C>T GRCh38
NC_000007.13:g.39990458C>T , CM000669.1:g.39990458C>T GRCh37
NC_000007.12:g.39956983C>T NCBI36
NG_052965.1:g.5500C>T

Transcript Alleles

HGVS Amino-acid Change
NM_003718.5:c.218C>T MANE Select NP_003709.3:p.Ala73Val
ENST00000181839.10:c.218C>T MANE Select ENSP00000181839.4:p.Ala73Val
NM_003718.4:c.218C>T NP_003709.3:p.Ala73Val
NM_031267.3:c.218C>T NP_112557.2:p.Ala73Val
ENST00000181839.8:c.218C>T ENSP00000181839.4:p.Ala73Val
ENST00000340829.10:c.218C>T ENSP00000340557.5:p.Ala73Val
ENST00000340829.9:c.218C>T ENSP00000340557.5:p.Ala73Val
ENST00000613626.4:c.-1625C>T ENSP00000480835.1:n.-1625C>T
XM_011515597.1:c.218C>T XP_011513899.1:p.Ala73Val
XM_011515597.3:c.218C>T XP_011513899.1:p.Ala73Val
XM_011515598.1:c.218C>T XP_011513900.1:p.Ala73Val
XM_017012750.2:c.218C>T XP_016868239.1:p.Ala73Val
XM_017012751.2:c.218C>T XP_016868240.1:p.Ala73Val