Canonical Allele Identifier: CA343962397

Gene: CDC73

Linked Data

• ClinVar Variation Id: 1717891
• ClinVar RCV Id: RCV002297880
• dbSNP Id: rs2103126212
• MyVariant Identifiers: chr1:g.193111051C>G (hg19) ; chr1:g.193141921C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.193141921C>G , CM000663.2:g.193141921C>G	GRCh38
NC_000001.10:g.193111051C>G , CM000663.1:g.193111051C>G	GRCh37
NC_000001.9:g.191377674C>G	NCBI36
NG_012691.1:g.24964C>G , LRG_507:g.24964C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367435.5:c.584C>G MANE Select	ENSP00000356405.4:p.Ser195Cys
ENST00000635846.1:c.584C>G	ENSP00000490035.1:p.Ser195Cys
ENST00000643006.1:c.584C>G	ENSP00000496633.1:p.Ser195Cys
ENST00000643784.1:c.*60C>G	ENSP00000494944.1:n.*60C>G
ENST00000647662.1:n.485C>G
ENST00000648071.1:c.*560C>G	ENSP00000497513.1:n.*560C>G
ENST00000649606.1:n.597C>G
ENST00000649706.1:n.525C>G
ENST00000649895.1:n.802C>G
ENST00000650197.1:c.584C>G	ENSP00000496929.1:p.Ser195Cys
ENST00000367435.3:c.584C>G	ENSP00000356405.3:p.Ser195Cys
NM_024529.4:c.584C>G , LRG_507t1:c.584C>G	NP_078805.3:p.Ser195Cys
XM_006711537.2:c.584C>G	XP_006711600.1:p.Ser195Cys
XM_006711537.4:c.584C>G	XP_006711600.1:p.Ser195Cys
NM_024529.5:c.584C>G MANE Select	NP_078805.3:p.Ser195Cys