Canonical Allele Identifier: CA422345263

Gene: CDC73

Linked Data

• ClinVar Variation Id: 1124586
• ClinVar RCV Id: RCV001456026
• dbSNP Id: rs2103126502
• gnomAD v4: 1-193142060-A-G
• MyVariant Identifiers: chr1:g.193111190A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.193142060A>G , CM000663.2:g.193142060A>G	GRCh38
NC_000001.10:g.193111190A>G , CM000663.1:g.193111190A>G	GRCh37
NC_000001.9:g.191377813A>G	NCBI36
NG_012691.1:g.25103A>G , LRG_507:g.25103A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367435.5:c.723A>G MANE Select	ENSP00000356405.4:p.Thr241=
ENST00000635846.1:c.723A>G	ENSP00000490035.1:p.Thr241=
ENST00000643006.1:c.723A>G	ENSP00000496633.1:p.Thr241=
ENST00000643784.1:c.*199A>G	ENSP00000494944.1:n.*199A>G
ENST00000647662.1:n.624A>G
ENST00000648071.1:c.*699A>G	ENSP00000497513.1:n.*699A>G
ENST00000649606.1:n.736A>G
ENST00000649895.1:n.941A>G
ENST00000650197.1:c.723A>G	ENSP00000496929.1:p.Thr241=
ENST00000367435.3:c.723A>G	ENSP00000356405.3:p.Thr241=
NM_024529.4:c.723A>G , LRG_507t1:c.723A>G	NP_078805.3:p.Thr241=
XM_006711537.2:c.723A>G	XP_006711600.1:p.Thr241=
XM_006711537.4:c.723A>G	XP_006711600.1:p.Thr241=
NM_024529.5:c.723A>G MANE Select	NP_078805.3:p.Thr241=