Canonical Allele Identifier: CA422345207

Gene: CDC73

Linked Data

• ClinVar Variation Id: 1038454
• ClinVar RCV Id: RCV001341768 ; RCV002368126
• dbSNP Id: rs1675914685
• MyVariant Identifiers: chr1:g.193111154A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.193142024A>G , CM000663.2:g.193142024A>G	GRCh38
NC_000001.10:g.193111154A>G , CM000663.1:g.193111154A>G	GRCh37
NC_000001.9:g.191377777A>G	NCBI36
NG_012691.1:g.25067A>G , LRG_507:g.25067A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367435.5:c.687A>G MANE Select	ENSP00000356405.4:p.Arg229=
ENST00000635846.1:c.687A>G	ENSP00000490035.1:p.Arg229=
ENST00000643006.1:c.687A>G	ENSP00000496633.1:p.Arg229=
ENST00000643784.1:c.*163A>G	ENSP00000494944.1:n.*163A>G
ENST00000647662.1:n.588A>G
ENST00000648071.1:c.*663A>G	ENSP00000497513.1:n.*663A>G
ENST00000649606.1:n.700A>G
ENST00000649895.1:n.905A>G
ENST00000650197.1:c.687A>G	ENSP00000496929.1:p.Arg229=
ENST00000367435.3:c.687A>G	ENSP00000356405.3:p.Arg229=
NM_024529.4:c.687A>G , LRG_507t1:c.687A>G	NP_078805.3:p.Arg229=
XM_006711537.2:c.687A>G	XP_006711600.1:p.Arg229=
XM_006711537.4:c.687A>G	XP_006711600.1:p.Arg229=
NM_024529.5:c.687A>G MANE Select	NP_078805.3:p.Arg229=