Canonical Allele Identifier: CA34373211

Gene: CDC73

Linked Data

• ClinVar Variation Id: 2562071
• ClinVar RCV Id: RCV003310131
• dbSNP Id: rs190156691
• gnomAD v4: 1-193142027-A-T
• MyVariant Identifiers: chr1:g.193111157A>T (hg19) ; chr1:g.193142027A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.193142027A>T , CM000663.2:g.193142027A>T	GRCh38
NC_000001.10:g.193111157A>T , CM000663.1:g.193111157A>T	GRCh37
NC_000001.9:g.191377780A>T	NCBI36
NG_012691.1:g.25070A>T , LRG_507:g.25070A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367435.5:c.690A>T MANE Select	ENSP00000356405.4:p.Val230=
ENST00000635846.1:c.690A>T	ENSP00000490035.1:p.Val230=
ENST00000643006.1:c.690A>T	ENSP00000496633.1:p.Val230=
ENST00000643784.1:c.*166A>T	ENSP00000494944.1:n.*166A>T
ENST00000647662.1:n.591A>T
ENST00000648071.1:c.*666A>T	ENSP00000497513.1:n.*666A>T
ENST00000649606.1:n.703A>T
ENST00000649895.1:n.908A>T
ENST00000650197.1:c.690A>T	ENSP00000496929.1:p.Val230=
ENST00000367435.3:c.690A>T	ENSP00000356405.3:p.Val230=
NM_024529.4:c.690A>T , LRG_507t1:c.690A>T	NP_078805.3:p.Val230=
XM_006711537.2:c.690A>T	XP_006711600.1:p.Val230=
XM_006711537.4:c.690A>T	XP_006711600.1:p.Val230=
NM_024529.5:c.690A>T MANE Select	NP_078805.3:p.Val230=