Canonical Allele Identifier: CA343972911

Gene: CDC73

Linked Data

• ClinVar Variation Id: 429954
• ClinVar RCV Id: RCV000493922 ; RCV001060944
• dbSNP Id: rs1131691698
• COSMIC: COSM6188779
• MyVariant Identifiers: chr1:g.193091415G>T (hg19) ; chr1:g.193122285G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.193122285G>T , CM000663.2:g.193122285G>T	GRCh38
NC_000001.10:g.193091415G>T , CM000663.1:g.193091415G>T	GRCh37
NC_000001.9:g.191358038G>T	NCBI36
NG_012691.1:g.5328G>T , LRG_507:g.5328G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367435.5:c.85G>T MANE Select	ENSP00000356405.4:p.Glu29Ter
ENST00000635846.1:c.85G>T	ENSP00000490035.1:p.Glu29Ter
ENST00000643006.1:c.85G>T	ENSP00000496633.1:p.Glu29Ter
ENST00000643784.1:c.85G>T	ENSP00000494944.1:p.Glu29Ter
ENST00000648071.1:c.85G>T	ENSP00000497513.1:p.Glu29Ter
ENST00000649606.1:n.98G>T
ENST00000649895.1:n.303G>T
ENST00000650197.1:c.85G>T	ENSP00000496929.1:p.Glu29Ter
ENST00000367435.3:c.85G>T	ENSP00000356405.3:p.Glu29Ter
NM_024529.4:c.85G>T , LRG_507t1:c.85G>T	NP_078805.3:p.Glu29Ter
XM_006711537.2:c.85G>T	XP_006711600.1:p.Glu29Ter
XM_006711537.4:c.85G>T	XP_006711600.1:p.Glu29Ter
XR_001738350.1:n.1372C>A
NM_024529.5:c.85G>T MANE Select	NP_078805.3:p.Glu29Ter