Canonical Allele Identifier: CA343962850

Gene: CDC73

Linked Data

• ClinVar Variation Id: 2418603
• ClinVar RCV Id: RCV003121352
• dbSNP Id: rs1675915717
• MyVariant Identifiers: chr1:g.193111192G>A (hg19) ; chr1:g.193142062G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.193142062G>A , CM000663.2:g.193142062G>A	GRCh38
NC_000001.10:g.193111192G>A , CM000663.1:g.193111192G>A	GRCh37
NC_000001.9:g.191377815G>A	NCBI36
NG_012691.1:g.25105G>A , LRG_507:g.25105G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367435.5:c.725G>A MANE Select	ENSP00000356405.4:p.Gly242Glu
ENST00000635846.1:c.725G>A	ENSP00000490035.1:p.Gly242Glu
ENST00000643006.1:c.725G>A	ENSP00000496633.1:p.Gly242Glu
ENST00000643784.1:c.*201G>A	ENSP00000494944.1:n.*201G>A
ENST00000647662.1:n.626G>A
ENST00000648071.1:c.*701G>A	ENSP00000497513.1:n.*701G>A
ENST00000649606.1:n.738G>A
ENST00000649895.1:n.943G>A
ENST00000650197.1:c.725G>A	ENSP00000496929.1:p.Gly242Glu
ENST00000367435.3:c.725G>A	ENSP00000356405.3:p.Gly242Glu
NM_024529.4:c.725G>A , LRG_507t1:c.725G>A	NP_078805.3:p.Gly242Glu
XM_006711537.2:c.725G>A	XP_006711600.1:p.Gly242Glu
XM_006711537.4:c.725G>A	XP_006711600.1:p.Gly242Glu
NM_024529.5:c.725G>A MANE Select	NP_078805.3:p.Gly242Glu