Canonical Allele Identifier: CA116128

Gene: CDC73

Linked Data

• ClinVar Variation Id: 3276
• ClinVar RCV Id: RCV000003435 ; RCV000003436 ; RCV000413007 ; RCV001054064 ; RCV002381237 ; RCV002496245
• dbSNP Id: rs587776558
• gnomAD v4: 1-193122332-G-A
• COSMIC: COSM26073
• MyVariant Identifiers: chr1:g.193091462G>A (hg19) ; chr1:g.193122332G>A (hg38)
• PubMed: PMID:15531515

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.193122332G>A , CM000663.2:g.193122332G>A	GRCh38
NC_000001.10:g.193091462G>A , CM000663.1:g.193091462G>A	GRCh37
NC_000001.9:g.191358085G>A	NCBI36
NG_012691.1:g.5375G>A , LRG_507:g.5375G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367435.5:c.131+1G>A MANE Select	ENSP00000356405.4:n.131+1G>A
ENST00000635846.1:c.131+1G>A	ENSP00000490035.1:n.131+1G>A
ENST00000643006.1:c.131+1G>A	ENSP00000496633.1:n.131+1G>A
ENST00000643784.1:c.131+1G>A	ENSP00000494944.1:n.131+1G>A
ENST00000647662.1:n.32+1G>A
ENST00000648071.1:c.131+1G>A	ENSP00000497513.1:n.131+1G>A
ENST00000649606.1:n.144+1G>A
ENST00000649895.1:n.349+1G>A
ENST00000650197.1:c.131+1G>A	ENSP00000496929.1:n.131+1G>A
ENST00000367435.3:c.131+1G>A	ENSP00000356405.3:n.131+1G>A
NM_024529.4:c.131+1G>A , LRG_507t1:c.131+1G>A	NP_078805.3:n.131+1G>A
XM_006711537.2:c.131+1G>A	XP_006711600.1:n.131+1G>A
XM_006711537.4:c.131+1G>A	XP_006711600.1:n.131+1G>A
XR_001738350.1:n.1325C>T
NM_024529.5:c.131+1G>A MANE Select	NP_078805.3:n.131+1G>A