Canonical Allele Identifier: CA422492606

Gene: CDC73

Linked Data

• ClinVar Variation Id: 1102572
• ClinVar RCV Id: RCV001425918
• dbSNP Id: rs2102073498
• MyVariant Identifiers: chr1:g.193218951A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.193249821A>G , CM000663.2:g.193249821A>G	GRCh38
NC_000001.10:g.193218951A>G , CM000663.1:g.193218951A>G	GRCh37
NC_000001.9:g.191485574A>G	NCBI36
NG_012691.1:g.132864A>G , LRG_507:g.132864A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367435.5:c.1509A>G MANE Select	ENSP00000356405.4:p.Lys503=
ENST00000635846.1:c.1266A>G	ENSP00000490035.1:p.Lys422=
ENST00000643006.1:c.*419A>G	ENSP00000496633.1:n.*419A>G
ENST00000648071.1:c.*1485A>G	ENSP00000497513.1:n.*1485A>G
ENST00000649613.1:n.759A>G
ENST00000650197.1:c.*207A>G	ENSP00000496929.1:n.*207A>G
ENST00000367435.3:c.1509A>G	ENSP00000356405.3:p.Lys503=
ENST00000477868.1:n.221A>G
NM_024529.4:c.1509A>G , LRG_507t1:c.1509A>G	NP_078805.3:p.Lys503=
NM_024529.5:c.1509A>G MANE Select	NP_078805.3:p.Lys503=