Canonical Allele Identifier: CA729343941

Gene: CDC73

Linked Data

• dbSNP Id: rs996130368
• gnomAD v3: 1-193122024-C-G
• gnomAD v4: 1-193122024-C-G
• MyVariant Identifiers: chr1:g.193091154C>G (hg19) ; chr1:g.193122024C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.193122024C>G , CM000663.2:g.193122024C>G	GRCh38
NC_000001.10:g.193091154C>G , CM000663.1:g.193091154C>G	GRCh37
NC_000001.9:g.191357777C>G	NCBI36
NG_012691.1:g.5067C>G , LRG_507:g.5067C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643006.1:c.-177C>G	ENSP00000496633.1:n.-177C>G
ENST00000649895.1:n.42C>G
ENST00000367435.3:c.-177C>G	ENSP00000356405.3:n.-177C>G
NM_024529.4:c.-177C>G , LRG_507t1:c.-177C>G	NP_078805.3:n.-177C>G
XR_001738350.1:n.1633G>C