Canonical Allele Identifier: CA528011375

Gene: CDC73

Linked Data

• dbSNP Id: rs1486879794
• gnomAD v2: 1-193173259-T-A
• gnomAD v3: 1-193204129-T-A
• gnomAD v4: 1-193204129-T-A
• MyVariant Identifiers: chr1:g.193173259T>A (hg19) ; chr1:g.193204129T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.193204129T>A , CM000663.2:g.193204129T>A	GRCh38
NC_000001.10:g.193173259T>A , CM000663.1:g.193173259T>A	GRCh37
NC_000001.9:g.191439882T>A	NCBI36
NG_012691.1:g.87172T>A , LRG_507:g.87172T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367435.5:c.1030+277T>A MANE Select	ENSP00000356405.4:n.1030+277T>A
ENST00000635846.1:c.787+277T>A	ENSP00000490035.1:n.787+277T>A
ENST00000643006.1:c.1098+277T>A	ENSP00000496633.1:n.1098+277T>A
ENST00000648071.1:c.*1006+277T>A	ENSP00000497513.1:n.*1006+277T>A
ENST00000649613.1:n.280+277T>A
ENST00000649895.1:n.1248+277T>A
ENST00000650197.1:c.1030+277T>A	ENSP00000496929.1:n.1030+277T>A
ENST00000367435.3:c.1030+277T>A	ENSP00000356405.3:n.1030+277T>A
NM_024529.4:c.1030+277T>A , LRG_507t1:c.1030+277T>A	NP_078805.3:n.1030+277T>A
NM_024529.5:c.1030+277T>A MANE Select	NP_078805.3:n.1030+277T>A