Canonical Allele Identifier: CA422345155

Gene: CDC73

Linked Data

• ClinVar Variation Id: 1148896
• ClinVar RCV Id: RCV001488936 ; RCV002368500
• dbSNP Id: rs1675913850
• gnomAD v3: 1-193141991-A-G
• gnomAD v4: 1-193141991-A-G
• MyVariant Identifiers: chr1:g.193111121A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.193141991A>G , CM000663.2:g.193141991A>G	GRCh38
NC_000001.10:g.193111121A>G , CM000663.1:g.193111121A>G	GRCh37
NC_000001.9:g.191377744A>G	NCBI36
NG_012691.1:g.25034A>G , LRG_507:g.25034A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367435.5:c.654A>G MANE Select	ENSP00000356405.4:p.Val218=
ENST00000635846.1:c.654A>G	ENSP00000490035.1:p.Val218=
ENST00000643006.1:c.654A>G	ENSP00000496633.1:p.Val218=
ENST00000643784.1:c.*130A>G	ENSP00000494944.1:n.*130A>G
ENST00000647662.1:n.555A>G
ENST00000648071.1:c.*630A>G	ENSP00000497513.1:n.*630A>G
ENST00000649606.1:n.667A>G
ENST00000649895.1:n.872A>G
ENST00000650197.1:c.654A>G	ENSP00000496929.1:p.Val218=
ENST00000367435.3:c.654A>G	ENSP00000356405.3:p.Val218=
NM_024529.4:c.654A>G , LRG_507t1:c.654A>G	NP_078805.3:p.Val218=
XM_006711537.2:c.654A>G	XP_006711600.1:p.Val218=
XM_006711537.4:c.654A>G	XP_006711600.1:p.Val218=
NM_024529.5:c.654A>G MANE Select	NP_078805.3:p.Val218=