Canonical Allele Identifier: CA344076083

Gene: CDC73

Linked Data

• ClinVar Variation Id: 1502509
• ClinVar RCV Id: RCV002022375 ; RCV002386882
• dbSNP Id: rs2103178025
• MyVariant Identifiers: chr1:g.193172928G>A (hg19) ; chr1:g.193203798G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.193203798G>A , CM000663.2:g.193203798G>A	GRCh38
NC_000001.10:g.193172928G>A , CM000663.1:g.193172928G>A	GRCh37
NC_000001.9:g.191439551G>A	NCBI36
NG_012691.1:g.86841G>A , LRG_507:g.86841G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367435.5:c.976G>A MANE Select	ENSP00000356405.4:p.Gly326Ser
ENST00000635846.1:c.733G>A	ENSP00000490035.1:p.Gly245Ser
ENST00000643006.1:c.1044G>A	ENSP00000496633.1:p.Arg348=
ENST00000648071.1:c.*952G>A	ENSP00000497513.1:n.*952G>A
ENST00000649613.1:n.226G>A
ENST00000649895.1:n.1194G>A
ENST00000650197.1:c.976G>A	ENSP00000496929.1:p.Gly326Ser
ENST00000367435.3:c.976G>A	ENSP00000356405.3:p.Gly326Ser
NM_024529.4:c.976G>A , LRG_507t1:c.976G>A	NP_078805.3:p.Gly326Ser
NM_024529.5:c.976G>A MANE Select	NP_078805.3:p.Gly326Ser