Canonical Allele Identifier: CA16609963

Gene: CDC73

Linked Data

• ClinVar Variation Id: 403883
• ClinVar RCV Id: RCV000473101
• dbSNP Id: rs1060500012
• MyVariant Identifiers: chr1:g.193111197G>T (hg19) ; chr1:g.193142067G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.193142067G>T , CM000663.2:g.193142067G>T	GRCh38
NC_000001.10:g.193111197G>T , CM000663.1:g.193111197G>T	GRCh37
NC_000001.9:g.191377820G>T	NCBI36
NG_012691.1:g.25110G>T , LRG_507:g.25110G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367435.5:c.729+1G>T MANE Select	ENSP00000356405.4:n.729+1G>T
ENST00000635846.1:c.729+1G>T	ENSP00000490035.1:n.729+1G>T
ENST00000643006.1:c.729+1G>T	ENSP00000496633.1:n.729+1G>T
ENST00000643784.1:c.*205+1G>T	ENSP00000494944.1:n.*205+1G>T
ENST00000647662.1:n.630+1G>T
ENST00000648071.1:c.*705+1G>T	ENSP00000497513.1:n.*705+1G>T
ENST00000649606.1:n.742+1G>T
ENST00000649895.1:n.947+1G>T
ENST00000650197.1:c.729+1G>T	ENSP00000496929.1:n.729+1G>T
ENST00000367435.3:c.729+1G>T	ENSP00000356405.3:n.729+1G>T
NM_024529.4:c.729+1G>T , LRG_507t1:c.729+1G>T	NP_078805.3:n.729+1G>T
XM_006711537.2:c.729+1G>T	XP_006711600.1:n.729+1G>T
XM_006711537.4:c.729+1G>T	XP_006711600.1:n.729+1G>T
NM_024529.5:c.729+1G>T MANE Select	NP_078805.3:n.729+1G>T