Canonical Allele Identifier: CA1303433

Gene: CDC73

Linked Data

• ClinVar Variation Id: 403879
• ClinVar RCV Id: RCV000462580 ; RCV002506088 ; RCV002365583
• dbSNP Id: rs145694828
• ExAC: 1:193111147 G / A
• gnomAD v2: 1-193111147-G-A
• gnomAD v3: 1-193142017-G-A
• gnomAD v4: 1-193142017-G-A
• MyVariant Identifiers: chr1:g.193111147G>A (hg19) ; chr1:g.193142017G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.193142017G>A , CM000663.2:g.193142017G>A	GRCh38
NC_000001.10:g.193111147G>A , CM000663.1:g.193111147G>A	GRCh37
NC_000001.9:g.191377770G>A	NCBI36
NG_012691.1:g.25060G>A , LRG_507:g.25060G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367435.5:c.680G>A MANE Select	ENSP00000356405.4:p.Arg227Lys
ENST00000635846.1:c.680G>A	ENSP00000490035.1:p.Arg227Lys
ENST00000643006.1:c.680G>A	ENSP00000496633.1:p.Arg227Lys
ENST00000643784.1:c.*156G>A	ENSP00000494944.1:n.*156G>A
ENST00000647662.1:n.581G>A
ENST00000648071.1:c.*656G>A	ENSP00000497513.1:n.*656G>A
ENST00000649606.1:n.693G>A
ENST00000649895.1:n.898G>A
ENST00000650197.1:c.680G>A	ENSP00000496929.1:p.Arg227Lys
ENST00000367435.3:c.680G>A	ENSP00000356405.3:p.Arg227Lys
NM_024529.4:c.680G>A , LRG_507t1:c.680G>A	NP_078805.3:p.Arg227Lys
XM_006711537.2:c.680G>A	XP_006711600.1:p.Arg227Lys
XM_006711537.4:c.680G>A	XP_006711600.1:p.Arg227Lys
NM_024529.5:c.680G>A MANE Select	NP_078805.3:p.Arg227Lys