Canonical Allele Identifier: CA343960811

Gene: CDC73

Linked Data

• ClinVar Variation Id: 430013
• ClinVar RCV Id: RCV000494022 ; RCV001379679
• dbSNP Id: rs1131691732
• gnomAD v4: 1-193135590-G-A
• MyVariant Identifiers: chr1:g.193104720G>A (hg19) ; chr1:g.193135590G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.193135590G>A , CM000663.2:g.193135590G>A	GRCh38
NC_000001.10:g.193104720G>A , CM000663.1:g.193104720G>A	GRCh37
NC_000001.9:g.191371343G>A	NCBI36
NG_012691.1:g.18633G>A , LRG_507:g.18633G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367435.5:c.423+1G>A MANE Select	ENSP00000356405.4:n.423+1G>A
ENST00000635846.1:c.423+1G>A	ENSP00000490035.1:n.423+1G>A
ENST00000643006.1:c.423+1G>A	ENSP00000496633.1:n.423+1G>A
ENST00000643784.1:c.423+1G>A	ENSP00000494944.1:n.423+1G>A
ENST00000647662.1:n.324+1G>A
ENST00000648071.1:c.*399+1G>A	ENSP00000497513.1:n.*399+1G>A
ENST00000649606.1:n.436+1G>A
ENST00000649706.1:n.364+1G>A
ENST00000649895.1:n.641+1G>A
ENST00000650197.1:c.423+1G>A	ENSP00000496929.1:n.423+1G>A
ENST00000367435.3:c.423+1G>A	ENSP00000356405.3:n.423+1G>A
ENST00000482484.1:n.675+1G>A
NM_024529.4:c.423+1G>A , LRG_507t1:c.423+1G>A	NP_078805.3:n.423+1G>A
XM_006711537.2:c.423+1G>A	XP_006711600.1:n.423+1G>A
XM_006711537.4:c.423+1G>A	XP_006711600.1:n.423+1G>A
NM_024529.5:c.423+1G>A MANE Select	NP_078805.3:n.423+1G>A