Canonical Allele Identifier: CA528011327

Gene: CDC73

Linked Data

• dbSNP Id: rs773585604
• gnomAD v2: 1-193173025-C-A
• gnomAD v3: 1-193203895-C-A
• gnomAD v4: 1-193203895-C-A
• MyVariant Identifiers: chr1:g.193173025C>A (hg19) ; chr1:g.193203895C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.193203895C>A , CM000663.2:g.193203895C>A	GRCh38
NC_000001.10:g.193173025C>A , CM000663.1:g.193173025C>A	GRCh37
NC_000001.9:g.191439648C>A	NCBI36
NG_012691.1:g.86938C>A , LRG_507:g.86938C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367435.5:c.1030+43C>A MANE Select	ENSP00000356405.4:n.1030+43C>A
ENST00000635846.1:c.787+43C>A	ENSP00000490035.1:n.787+43C>A
ENST00000643006.1:c.1098+43C>A	ENSP00000496633.1:n.1098+43C>A
ENST00000648071.1:c.*1006+43C>A	ENSP00000497513.1:n.*1006+43C>A
ENST00000649613.1:n.280+43C>A
ENST00000649895.1:n.1248+43C>A
ENST00000650197.1:c.1030+43C>A	ENSP00000496929.1:n.1030+43C>A
ENST00000367435.3:c.1030+43C>A	ENSP00000356405.3:n.1030+43C>A
NM_024529.4:c.1030+43C>A , LRG_507t1:c.1030+43C>A	NP_078805.3:n.1030+43C>A
NM_024529.5:c.1030+43C>A MANE Select	NP_078805.3:n.1030+43C>A