Canonical Allele Identifier: CA422492604
Gene: CDC73 HGNC NCBI

Linked Data

ClinVar Variation Id: 2750111
ClinVar RCV Id: RCV003500012
MyVariant Identifiers: chr1:g.193218945T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.193249815T>C , CM000663.2:g.193249815T>C GRCh38
NC_000001.10:g.193218945T>C , CM000663.1:g.193218945T>C GRCh37
NC_000001.9:g.191485568T>C NCBI36
NG_012691.1:g.132858T>C , LRG_507:g.132858T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000367435.5:c.1503T>C MANE Select ENSP00000356405.4:p.Tyr501=
ENST00000635846.1:c.1260T>C ENSP00000490035.1:p.Tyr420=
ENST00000643006.1:c.*413T>C ENSP00000496633.1:n.*413T>C
ENST00000648071.1:c.*1479T>C ENSP00000497513.1:n.*1479T>C
ENST00000649613.1:n.753T>C
ENST00000650197.1:c.*201T>C ENSP00000496929.1:n.*201T>C
ENST00000367435.3:c.1503T>C ENSP00000356405.3:p.Tyr501=
ENST00000477868.1:n.215T>C
NM_024529.4:c.1503T>C , LRG_507t1:c.1503T>C NP_078805.3:p.Tyr501=
NM_024529.5:c.1503T>C MANE Select NP_078805.3:p.Tyr501=