Canonical Allele Identifier: CA10608636

Gene: CDC73

Linked Data

• ClinVar Variation Id: 294404
• ClinVar RCV Id: RCV000277791 ; RCV000332906 ; RCV000367696
• dbSNP Id: rs886045709
• gnomAD v2: 1-193091141-G-C
• gnomAD v3: 1-193122011-G-C
• gnomAD v4: 1-193122011-G-C
• MyVariant Identifiers: chr1:g.193091141G>C (hg19) ; chr1:g.193122011G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.193122011G>C , CM000663.2:g.193122011G>C	GRCh38
NC_000001.10:g.193091141G>C , CM000663.1:g.193091141G>C	GRCh37
NC_000001.9:g.191357764G>C	NCBI36
NG_012691.1:g.5054G>C , LRG_507:g.5054G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643006.1:c.-190G>C	ENSP00000496633.1:n.-190G>C
ENST00000649895.1:n.29G>C
NM_024529.4:c.-190G>C , LRG_507t1:c.-190G>C	NP_078805.3:n.-190G>C
XR_001738350.1:n.1646C>G