Canonical Allele Identifier: CA422344823

Gene: CDC73

Linked Data

• ClinVar Variation Id: 751720
• ClinVar RCV Id: RCV001456886
• dbSNP Id: rs1572152394
• MyVariant Identifiers: chr1:g.193107250G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.193138120G>A , CM000663.2:g.193138120G>A	GRCh38
NC_000001.10:g.193107250G>A , CM000663.1:g.193107250G>A	GRCh37
NC_000001.9:g.191373873G>A	NCBI36
NG_012691.1:g.21163G>A , LRG_507:g.21163G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000367435.5:c.459G>A MANE Select	ENSP00000356405.4:p.Leu153=
ENST00000635846.1:c.459G>A	ENSP00000490035.1:p.Leu153=
ENST00000643006.1:c.459G>A	ENSP00000496633.1:p.Leu153=
ENST00000643784.1:c.459G>A	ENSP00000494944.1:p.Leu153=
ENST00000647662.1:n.360G>A
ENST00000648071.1:c.*435G>A	ENSP00000497513.1:n.*435G>A
ENST00000649606.1:n.472G>A
ENST00000649706.1:n.400G>A
ENST00000649895.1:n.677G>A
ENST00000650197.1:c.459G>A	ENSP00000496929.1:p.Leu153=
ENST00000367435.3:c.459G>A	ENSP00000356405.3:p.Leu153=
ENST00000482484.1:n.711G>A
NM_024529.4:c.459G>A , LRG_507t1:c.459G>A	NP_078805.3:p.Leu153=
XM_006711537.2:c.459G>A	XP_006711600.1:p.Leu153=
XM_006711537.4:c.459G>A	XP_006711600.1:p.Leu153=
NM_024529.5:c.459G>A MANE Select	NP_078805.3:p.Leu153=