Canonical Allele Identifier: CA1303806
Community Standard Title: NM_024529.5(CDC73):c.1248C>T (p.Gly416=)
Gene: CDC73 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.193233086C>T , CM000663.2:g.193233086C>T GRCh38
NC_000001.10:g.193202216C>T , CM000663.1:g.193202216C>T GRCh37
NC_000001.9:g.191468839C>T NCBI36
NG_012691.1:g.116129C>T , LRG_507:g.116129C>T

Transcript Alleles

HGVS Amino-acid Change
NM_024529.5:c.1248C>T MANE Select NP_078805.3:p.Gly416=
ENST00000367435.5:c.1248C>T MANE Select ENSP00000356405.4:p.Gly416=
NM_024529.4:c.1248C>T , LRG_507t1:c.1248C>T NP_078805.3:p.Gly416=
ENST00000367435.3:c.1248C>T ENSP00000356405.3:p.Gly416=
ENST00000477868.1:n.61C>T
ENST00000635846.1:c.1005C>T ENSP00000490035.1:p.Gly335=
ENST00000643006.1:c.*158C>T ENSP00000496633.1:n.*158C>T
ENST00000648071.1:c.*1224C>T ENSP00000497513.1:n.*1224C>T
ENST00000649613.1:n.498C>T
ENST00000649895.1:n.1466C>T
ENST00000650197.1:c.1248C>T ENSP00000496929.1:p.Gly416=