Canonical Allele Identifier: CA10609214

Gene: CDC73

Linked Data

• ClinVar Variation Id: 294436
• ClinVar RCV Id: RCV000284081 ; RCV000347066 ; RCV000403103
• dbSNP Id: rs138503809
• gnomAD v2: 1-193221341-T-A
• gnomAD v3: 1-193252211-T-A
• gnomAD v4: 1-193252211-T-A
• MyVariant Identifiers: chr1:g.193221341T>A (hg19) ; chr1:g.193252211T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.193252211T>A , CM000663.2:g.193252211T>A	GRCh38
NC_000001.10:g.193221341T>A , CM000663.1:g.193221341T>A	GRCh37
NC_000001.9:g.191487964T>A	NCBI36
NG_012691.1:g.135254T>A , LRG_507:g.135254T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367435.5:c.*1499T>A MANE Select	ENSP00000356405.4:n.*1499T>A
ENST00000635846.1:c.*1499T>A	ENSP00000490035.1:n.*1499T>A
ENST00000643006.1:c.*2005T>A	ENSP00000496633.1:n.*2005T>A
ENST00000367435.3:c.*1499T>A	ENSP00000356405.3:n.*1499T>A
NM_024529.4:c.*1499T>A , LRG_507t1:c.*1499T>A	NP_078805.3:n.*1499T>A
NM_024529.5:c.*1499T>A MANE Select	NP_078805.3:n.*1499T>A