Canonical Allele Identifier: CA10602772

Gene: CDC73

Linked Data

• ClinVar Variation Id: 279950
• ClinVar RCV Id: RCV000341460 ; RCV001381894
• dbSNP Id: rs886041278
• MyVariant Identifiers: chr1:g.193104568C>T (hg19) ; chr1:g.193135438C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.193135438C>T , CM000663.2:g.193135438C>T	GRCh38
NC_000001.10:g.193104568C>T , CM000663.1:g.193104568C>T	GRCh37
NC_000001.9:g.191371191C>T	NCBI36
NG_012691.1:g.18481C>T , LRG_507:g.18481C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367435.5:c.355C>T MANE Select	ENSP00000356405.4:p.Gln119Ter
ENST00000635846.1:c.355C>T	ENSP00000490035.1:p.Gln119Ter
ENST00000643006.1:c.355C>T	ENSP00000496633.1:p.Gln119Ter
ENST00000643784.1:c.355C>T	ENSP00000494944.1:p.Gln119Ter
ENST00000647662.1:n.256C>T
ENST00000648071.1:c.*331C>T	ENSP00000497513.1:n.*331C>T
ENST00000649606.1:n.368C>T
ENST00000649706.1:n.296C>T
ENST00000649895.1:n.573C>T
ENST00000650197.1:c.355C>T	ENSP00000496929.1:p.Gln119Ter
ENST00000367435.3:c.355C>T	ENSP00000356405.3:p.Gln119Ter
ENST00000482484.1:n.607C>T
NM_024529.4:c.355C>T , LRG_507t1:c.355C>T	NP_078805.3:p.Gln119Ter
XM_006711537.2:c.355C>T	XP_006711600.1:p.Gln119Ter
XM_006711537.4:c.355C>T	XP_006711600.1:p.Gln119Ter
NM_024529.5:c.355C>T MANE Select	NP_078805.3:p.Gln119Ter