Canonical Allele Identifier: CA1303709

Gene: CDC73

Linked Data

• ClinVar Variation Id: 403894
• ClinVar RCV Id: RCV000468059 ; RCV001019869 ; RCV001543130 ; RCV002473006 ; RCV003463838
• dbSNP Id: rs149875598
• ExAC: 1:193172941 G / A
• gnomAD v2: 1-193172941-G-A
• gnomAD v3: 1-193203811-G-A
• gnomAD v4: 1-193203811-G-A
• MyVariant Identifiers: chr1:g.193172941G>A (hg19) ; chr1:g.193203811G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.193203811G>A , CM000663.2:g.193203811G>A	GRCh38
NC_000001.10:g.193172941G>A , CM000663.1:g.193172941G>A	GRCh37
NC_000001.9:g.191439564G>A	NCBI36
NG_012691.1:g.86854G>A , LRG_507:g.86854G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367435.5:c.989G>A MANE Select	ENSP00000356405.4:p.Arg330Gln
ENST00000635846.1:c.746G>A	ENSP00000490035.1:p.Arg249Gln
ENST00000643006.1:c.1057G>A	ENSP00000496633.1:p.Gly353Arg
ENST00000648071.1:c.*965G>A	ENSP00000497513.1:n.*965G>A
ENST00000649613.1:n.239G>A
ENST00000649895.1:n.1207G>A
ENST00000650197.1:c.989G>A	ENSP00000496929.1:p.Arg330Gln
ENST00000367435.3:c.989G>A	ENSP00000356405.3:p.Arg330Gln
NM_024529.4:c.989G>A , LRG_507t1:c.989G>A	NP_078805.3:p.Arg330Gln
NM_024529.5:c.989G>A MANE Select	NP_078805.3:p.Arg330Gln