Canonical Allele Identifier: CA344078628

Gene: CDC73

Linked Data

• dbSNP Id: rs2102073604
• MyVariant Identifiers: chr1:g.193218987G>C (hg19) ; chr1:g.193249857G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.193249857G>C , CM000663.2:g.193249857G>C	GRCh38
NC_000001.10:g.193218987G>C , CM000663.1:g.193218987G>C	GRCh37
NC_000001.9:g.191485610G>C	NCBI36
NG_012691.1:g.132900G>C , LRG_507:g.132900G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367435.5:c.1545G>C MANE Select	ENSP00000356405.4:p.Trp515Cys
ENST00000635846.1:c.1302G>C	ENSP00000490035.1:p.Trp434Cys
ENST00000643006.1:c.*455G>C	ENSP00000496633.1:n.*455G>C
ENST00000648071.1:c.*1521G>C	ENSP00000497513.1:n.*1521G>C
ENST00000649613.1:n.795G>C
ENST00000650197.1:c.*243G>C	ENSP00000496929.1:n.*243G>C
ENST00000367435.3:c.1545G>C	ENSP00000356405.3:p.Trp515Cys
ENST00000477868.1:n.257G>C
NM_024529.4:c.1545G>C , LRG_507t1:c.1545G>C	NP_078805.3:p.Trp515Cys
NM_024529.5:c.1545G>C MANE Select	NP_078805.3:p.Trp515Cys