Canonical Allele Identifier: CA10609153

Gene: CDC73

Linked Data

• ClinVar Variation Id: 294427
• ClinVar RCV Id: RCV000267945 ; RCV000315729 ; RCV000372648
• dbSNP Id: rs367704451
• gnomAD v2: 1-193220925-A-T
• gnomAD v3: 1-193251795-A-T
• gnomAD v4: 1-193251795-A-T
• MyVariant Identifiers: chr1:g.193220925A>T (hg19) ; chr1:g.193251795A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.193251795A>T , CM000663.2:g.193251795A>T	GRCh38
NC_000001.10:g.193220925A>T , CM000663.1:g.193220925A>T	GRCh37
NC_000001.9:g.191487548A>T	NCBI36
NG_012691.1:g.134838A>T , LRG_507:g.134838A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000367435.5:c.*1083A>T MANE Select	ENSP00000356405.4:n.*1083A>T
ENST00000635846.1:c.*1083A>T	ENSP00000490035.1:n.*1083A>T
ENST00000643006.1:c.*1589A>T	ENSP00000496633.1:n.*1589A>T
ENST00000367435.3:c.*1083A>T	ENSP00000356405.3:n.*1083A>T
NM_024529.4:c.*1083A>T , LRG_507t1:c.*1083A>T	NP_078805.3:n.*1083A>T
NM_024529.5:c.*1083A>T MANE Select	NP_078805.3:n.*1083A>T