Canonical Allele Identifier: CA10608646

Gene: CDC73

Linked Data

• ClinVar Variation Id: 294452
• ClinVar RCV Id: RCV000260544 ; RCV000300501 ; RCV000355299
• dbSNP Id: rs886045730
• gnomAD v3: 1-193253363-T-G
• gnomAD v4: 1-193253363-T-G
• MyVariant Identifiers: chr1:g.193222493T>G (hg19) ; chr1:g.193253363T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.193253363T>G , CM000663.2:g.193253363T>G	GRCh38
NC_000001.10:g.193222493T>G , CM000663.1:g.193222493T>G	GRCh37
NC_000001.9:g.191489116T>G	NCBI36
NG_012691.1:g.136406T>G , LRG_507:g.136406T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367435.5:c.*2651T>G MANE Select	ENSP00000356405.4:n.*2651T>G
ENST00000367435.3:c.*2651T>G	ENSP00000356405.3:n.*2651T>G
NM_024529.4:c.*2651T>G , LRG_507t1:c.*2651T>G	NP_078805.3:n.*2651T>G
NM_024529.5:c.*2651T>G MANE Select	NP_078805.3:n.*2651T>G