Canonical Allele Identifier: CA10609140

Gene: CDC73

Linked Data

• ClinVar Variation Id: 294410
• ClinVar RCV Id: RCV000374190 ; RCV000319509 ; RCV000278443 ; RCV003165792
• dbSNP Id: rs886045712
• gnomAD v4: 1-193125136-A-G
• MyVariant Identifiers: chr1:g.193094266A>G (hg19) ; chr1:g.193125136A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.193125136A>G , CM000663.2:g.193125136A>G	GRCh38
NC_000001.10:g.193094266A>G , CM000663.1:g.193094266A>G	GRCh37
NC_000001.9:g.191360889A>G	NCBI36
NG_012691.1:g.8179A>G , LRG_507:g.8179A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367435.5:c.156A>G MANE Select	ENSP00000356405.4:p.Arg52=
ENST00000635846.1:c.156A>G	ENSP00000490035.1:p.Arg52=
ENST00000643006.1:c.156A>G	ENSP00000496633.1:p.Arg52=
ENST00000643784.1:c.156A>G	ENSP00000494944.1:p.Arg52=
ENST00000647662.1:n.57A>G
ENST00000648071.1:c.156A>G	ENSP00000497513.1:p.Arg52=
ENST00000649606.1:n.169A>G
ENST00000649706.1:n.97A>G
ENST00000649895.1:n.374A>G
ENST00000650197.1:c.156A>G	ENSP00000496929.1:p.Arg52=
ENST00000367435.3:c.156A>G	ENSP00000356405.3:p.Arg52=
ENST00000482484.1:n.117A>G
NM_024529.4:c.156A>G , LRG_507t1:c.156A>G	NP_078805.3:p.Arg52=
XM_006711537.2:c.156A>G	XP_006711600.1:p.Arg52=
XR_241165.2:n.304-829T>C
XM_006711537.4:c.156A>G	XP_006711600.1:p.Arg52=
NM_024529.5:c.156A>G MANE Select	NP_078805.3:p.Arg52=