Canonical Allele Identifier: CA1303306
Community Standard Title: NM_024529.5(CDC73):c.305C>T (p.Ala102Val)
Gene: CDC73 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.193130241C>T , CM000663.2:g.193130241C>T GRCh38
NC_000001.10:g.193099371C>T , CM000663.1:g.193099371C>T GRCh37
NC_000001.9:g.191365994C>T NCBI36
NG_012691.1:g.13284C>T , LRG_507:g.13284C>T

Transcript Alleles

HGVS Amino-acid Change
NM_024529.5:c.305C>T MANE Select NP_078805.3:p.Ala102Val
ENST00000367435.5:c.305C>T MANE Select ENSP00000356405.4:p.Ala102Val
NM_024529.4:c.305C>T , LRG_507t1:c.305C>T NP_078805.3:p.Ala102Val
ENST00000367435.3:c.305C>T ENSP00000356405.3:p.Ala102Val
ENST00000482484.1:n.557C>T
ENST00000635846.1:c.305C>T ENSP00000490035.1:p.Ala102Val
ENST00000643006.1:c.305C>T ENSP00000496633.1:p.Ala102Val
ENST00000643784.1:c.305C>T ENSP00000494944.1:p.Ala102Val
ENST00000647662.1:n.206C>T
ENST00000648071.1:c.*281C>T ENSP00000497513.1:n.*281C>T
ENST00000649606.1:n.318C>T
ENST00000649706.1:n.246C>T
ENST00000649895.1:n.523C>T
ENST00000650197.1:c.305C>T ENSP00000496929.1:p.Ala102Val
XM_006711537.2:c.305C>T XP_006711600.1:p.Ala102Val
XM_006711537.4:c.305C>T XP_006711600.1:p.Ala102Val
XR_241165.2:n.303+116G>A