Canonical Allele Identifier: CA422491648

Gene: CDC73

Linked Data

• ClinVar Variation Id: 2040717
• ClinVar RCV Id: RCV002912677
• MyVariant Identifiers: chr1:g.193172972A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.193203842A>G , CM000663.2:g.193203842A>G	GRCh38
NC_000001.10:g.193172972A>G , CM000663.1:g.193172972A>G	GRCh37
NC_000001.9:g.191439595A>G	NCBI36
NG_012691.1:g.86885A>G , LRG_507:g.86885A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367435.5:c.1020A>G MANE Select	ENSP00000356405.4:p.Val340=
ENST00000635846.1:c.777A>G	ENSP00000490035.1:p.Val259=
ENST00000643006.1:c.1088A>G	ENSP00000496633.1:p.Tyr363Cys
ENST00000648071.1:c.*996A>G	ENSP00000497513.1:n.*996A>G
ENST00000649613.1:n.270A>G
ENST00000649895.1:n.1238A>G
ENST00000650197.1:c.1020A>G	ENSP00000496929.1:p.Val340=
ENST00000367435.3:c.1020A>G	ENSP00000356405.3:p.Val340=
NM_024529.4:c.1020A>G , LRG_507t1:c.1020A>G	NP_078805.3:p.Val340=
NM_024529.5:c.1020A>G MANE Select	NP_078805.3:p.Val340=