Canonical Allele Identifier: CA1303248

Gene: CDC73

Linked Data

• ClinVar Variation Id: 838171
• ClinVar RCV Id: RCV001039668 ; RCV002327267
• dbSNP Id: rs767638609
• ExAC: 1:193091371 A / G
• gnomAD v2: 1-193091371-A-G
• gnomAD v4: 1-193122241-A-G
• MyVariant Identifiers: chr1:g.193091371A>G (hg19) ; chr1:g.193122241A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.193122241A>G , CM000663.2:g.193122241A>G	GRCh38
NC_000001.10:g.193091371A>G , CM000663.1:g.193091371A>G	GRCh37
NC_000001.9:g.191357994A>G	NCBI36
NG_012691.1:g.5284A>G , LRG_507:g.5284A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367435.5:c.41A>G MANE Select	ENSP00000356405.4:p.Gln14Arg
ENST00000635846.1:c.41A>G	ENSP00000490035.1:p.Gln14Arg
ENST00000643006.1:c.41A>G	ENSP00000496633.1:p.Gln14Arg
ENST00000643784.1:c.41A>G	ENSP00000494944.1:p.Gln14Arg
ENST00000648071.1:c.41A>G	ENSP00000497513.1:p.Gln14Arg
ENST00000649606.1:n.54A>G
ENST00000649895.1:n.259A>G
ENST00000650197.1:c.41A>G	ENSP00000496929.1:p.Gln14Arg
ENST00000367435.3:c.41A>G	ENSP00000356405.3:p.Gln14Arg
NM_024529.4:c.41A>G , LRG_507t1:c.41A>G	NP_078805.3:p.Gln14Arg
XM_006711537.2:c.41A>G	XP_006711600.1:p.Gln14Arg
XM_006711537.4:c.41A>G	XP_006711600.1:p.Gln14Arg
XR_001738350.1:n.1416T>C
NM_024529.5:c.41A>G MANE Select	NP_078805.3:p.Gln14Arg