Canonical Allele Identifier: CA343962667

Gene: CDC73

Linked Data

• ClinVar Variation Id: 2118972
• ClinVar RCV Id: RCV003032860
• MyVariant Identifiers: chr1:g.193111113G>C (hg19) ; chr1:g.193141983G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.193141983G>C , CM000663.2:g.193141983G>C	GRCh38
NC_000001.10:g.193111113G>C , CM000663.1:g.193111113G>C	GRCh37
NC_000001.9:g.191377736G>C	NCBI36
NG_012691.1:g.25026G>C , LRG_507:g.25026G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367435.5:c.646G>C MANE Select	ENSP00000356405.4:p.Ala216Pro
ENST00000635846.1:c.646G>C	ENSP00000490035.1:p.Ala216Pro
ENST00000643006.1:c.646G>C	ENSP00000496633.1:p.Ala216Pro
ENST00000643784.1:c.*122G>C	ENSP00000494944.1:n.*122G>C
ENST00000647662.1:n.547G>C
ENST00000648071.1:c.*622G>C	ENSP00000497513.1:n.*622G>C
ENST00000649606.1:n.659G>C
ENST00000649895.1:n.864G>C
ENST00000650197.1:c.646G>C	ENSP00000496929.1:p.Ala216Pro
ENST00000367435.3:c.646G>C	ENSP00000356405.3:p.Ala216Pro
NM_024529.4:c.646G>C , LRG_507t1:c.646G>C	NP_078805.3:p.Ala216Pro
XM_006711537.2:c.646G>C	XP_006711600.1:p.Ala216Pro
XM_006711537.4:c.646G>C	XP_006711600.1:p.Ala216Pro
NM_024529.5:c.646G>C MANE Select	NP_078805.3:p.Ala216Pro