Canonical Allele Identifier: CA1303805

Gene: CDC73

Linked Data

• ClinVar Variation Id: 462742
• ClinVar RCV Id: RCV000559332 ; RCV002506324 ; RCV003318589 ; RCV003459224 ; RCV002367831
• dbSNP Id: rs757006970
• ExAC: 1:193202204 G / A
• gnomAD v2: 1-193202204-G-A
• gnomAD v3: 1-193233074-G-A
• gnomAD v4: 1-193233074-G-A
• MyVariant Identifiers: chr1:g.193202204G>A (hg19) ; chr1:g.193233074G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.193233074G>A , CM000663.2:g.193233074G>A	GRCh38
NC_000001.10:g.193202204G>A , CM000663.1:g.193202204G>A	GRCh37
NC_000001.9:g.191468827G>A	NCBI36
NG_012691.1:g.116117G>A , LRG_507:g.116117G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367435.5:c.1236G>A MANE Select	ENSP00000356405.4:p.Met412Ile
ENST00000635846.1:c.993G>A	ENSP00000490035.1:p.Met331Ile
ENST00000643006.1:c.*146G>A	ENSP00000496633.1:n.*146G>A
ENST00000648071.1:c.*1212G>A	ENSP00000497513.1:n.*1212G>A
ENST00000649613.1:n.486G>A
ENST00000649895.1:n.1454G>A
ENST00000650197.1:c.1236G>A	ENSP00000496929.1:p.Met412Ile
ENST00000367435.3:c.1236G>A	ENSP00000356405.3:p.Met412Ile
ENST00000477868.1:n.49G>A
NM_024529.4:c.1236G>A , LRG_507t1:c.1236G>A	NP_078805.3:p.Met412Ile
NM_024529.5:c.1236G>A MANE Select	NP_078805.3:p.Met412Ile