Canonical Allele Identifier: CA343962547

Gene: CDC73

Linked Data

• ClinVar Variation Id: 3227879
• ClinVar RCV Id: RCV004517628
• dbSNP Id: rs2103126249
• MyVariant Identifiers: chr1:g.193111087C>A (hg19) ; chr1:g.193141957C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.193141957C>A , CM000663.2:g.193141957C>A	GRCh38
NC_000001.10:g.193111087C>A , CM000663.1:g.193111087C>A	GRCh37
NC_000001.9:g.191377710C>A	NCBI36
NG_012691.1:g.25000C>A , LRG_507:g.25000C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367435.5:c.620C>A MANE Select	ENSP00000356405.4:p.Ala207Asp
ENST00000635846.1:c.620C>A	ENSP00000490035.1:p.Ala207Asp
ENST00000643006.1:c.620C>A	ENSP00000496633.1:p.Ala207Asp
ENST00000643784.1:c.*96C>A	ENSP00000494944.1:n.*96C>A
ENST00000647662.1:n.521C>A
ENST00000648071.1:c.*596C>A	ENSP00000497513.1:n.*596C>A
ENST00000649606.1:n.633C>A
ENST00000649895.1:n.838C>A
ENST00000650197.1:c.620C>A	ENSP00000496929.1:p.Ala207Asp
ENST00000367435.3:c.620C>A	ENSP00000356405.3:p.Ala207Asp
NM_024529.4:c.620C>A , LRG_507t1:c.620C>A	NP_078805.3:p.Ala207Asp
XM_006711537.2:c.620C>A	XP_006711600.1:p.Ala207Asp
XM_006711537.4:c.620C>A	XP_006711600.1:p.Ala207Asp
NM_024529.5:c.620C>A MANE Select	NP_078805.3:p.Ala207Asp