Canonical Allele Identifier: CA252641

Gene: CDC73

Linked Data

• ClinVar Variation Id: 3267
• ClinVar RCV Id: RCV000003424
• dbSNP Id: rs28942098
• MyVariant Identifiers: chr1:g.193091333G>A (hg19) ; chr1:g.193122203G>A (hg38)
• PubMed: PMID:12434154

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.193122203G>A , CM000663.2:g.193122203G>A	GRCh38
NC_000001.10:g.193091333G>A , CM000663.1:g.193091333G>A	GRCh37
NC_000001.9:g.191357956G>A	NCBI36
NG_012691.1:g.5246G>A , LRG_507:g.5246G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000367435.5:c.3G>A MANE Select	ENSP00000356405.4:p.Met1Ile
ENST00000635846.1:c.3G>A	ENSP00000490035.1:p.Met1Ile
ENST00000643006.1:c.3G>A	ENSP00000496633.1:p.Met1Ile
ENST00000643784.1:c.3G>A	ENSP00000494944.1:p.Met1Ile
ENST00000648071.1:c.3G>A	ENSP00000497513.1:p.Met1Ile
ENST00000649606.1:n.16G>A
ENST00000649895.1:n.221G>A
ENST00000650197.1:c.3G>A	ENSP00000496929.1:p.Met1Ile
ENST00000367435.3:c.3G>A	ENSP00000356405.3:p.Met1Ile
NM_024529.4:c.3G>A , LRG_507t1:c.3G>A	NP_078805.3:p.Met1Ile
XM_006711537.2:c.3G>A	XP_006711600.1:p.Met1Ile
XM_006711537.4:c.3G>A	XP_006711600.1:p.Met1Ile
XR_001738350.1:n.1454C>T
NM_024529.5:c.3G>A MANE Select	NP_078805.3:p.Met1Ile