Canonical Allele Identifier: CA343962445

Gene: CDC73

Linked Data

• ClinVar Variation Id: 2115067
• ClinVar RCV Id: RCV003046269
• dbSNP Id: rs2103126224
• MyVariant Identifiers: chr1:g.193111063C>G (hg19) ; chr1:g.193141933C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.193141933C>G , CM000663.2:g.193141933C>G	GRCh38
NC_000001.10:g.193111063C>G , CM000663.1:g.193111063C>G	GRCh37
NC_000001.9:g.191377686C>G	NCBI36
NG_012691.1:g.24976C>G , LRG_507:g.24976C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367435.5:c.596C>G MANE Select	ENSP00000356405.4:p.Thr199Ser
ENST00000635846.1:c.596C>G	ENSP00000490035.1:p.Thr199Ser
ENST00000643006.1:c.596C>G	ENSP00000496633.1:p.Thr199Ser
ENST00000643784.1:c.*72C>G	ENSP00000494944.1:n.*72C>G
ENST00000647662.1:n.497C>G
ENST00000648071.1:c.*572C>G	ENSP00000497513.1:n.*572C>G
ENST00000649606.1:n.609C>G
ENST00000649706.1:n.537C>G
ENST00000649895.1:n.814C>G
ENST00000650197.1:c.596C>G	ENSP00000496929.1:p.Thr199Ser
ENST00000367435.3:c.596C>G	ENSP00000356405.3:p.Thr199Ser
NM_024529.4:c.596C>G , LRG_507t1:c.596C>G	NP_078805.3:p.Thr199Ser
XM_006711537.2:c.596C>G	XP_006711600.1:p.Thr199Ser
XM_006711537.4:c.596C>G	XP_006711600.1:p.Thr199Ser
NM_024529.5:c.596C>G MANE Select	NP_078805.3:p.Thr199Ser