Canonical Allele Identifier: CA4228469
Community Standard Title: NM_003718.5(CDK13):c.1301G>A (p.Arg434His)
Gene: CDK13 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.39987688G>A , CM000669.2:g.39987688G>A GRCh38
NC_000007.13:g.40027287G>A , CM000669.1:g.40027287G>A GRCh37
NC_000007.12:g.39993812G>A NCBI36
NG_052965.1:g.42329G>A

Transcript Alleles

HGVS Amino-acid Change
NM_003718.5:c.1301G>A MANE Select NP_003709.3:p.Arg434His
ENST00000181839.10:c.1301G>A MANE Select ENSP00000181839.4:p.Arg434His
NM_003718.4:c.1301G>A NP_003709.3:p.Arg434His
NM_031267.3:c.1301G>A NP_112557.2:p.Arg434His
ENST00000181839.8:c.1301G>A ENSP00000181839.4:p.Arg434His
ENST00000340829.10:c.1301G>A ENSP00000340557.5:p.Arg434His
ENST00000340829.9:c.1301G>A ENSP00000340557.5:p.Arg434His
ENST00000611390.1:c.-542G>A ENSP00000484610.1:n.-542G>A
ENST00000613626.4:c.-542G>A ENSP00000480835.1:n.-542G>A
ENST00000642626.1:c.90G>A
ENST00000642660.1:n.90G>A
ENST00000643859.1:c.192G>A
ENST00000646039.1:c.641G>A ENSP00000494168.1:p.Arg214His
ENST00000647518.1:n.3138G>A
XM_011515597.1:c.1301G>A XP_011513899.1:p.Arg434His
XM_011515597.3:c.1301G>A XP_011513899.1:p.Arg434His
XM_011515598.1:c.1301G>A XP_011513900.1:p.Arg434His
XM_017012750.2:c.1301G>A XP_016868239.1:p.Arg434His
XM_017012751.2:c.1301G>A XP_016868240.1:p.Arg434His