Canonical Allele Identifier: CA1303282

Gene: CDC73

Linked Data

• ClinVar Variation Id: 294411
• ClinVar RCV Id: RCV001014111 ; RCV000292768 ; RCV000350018 ; RCV000405673
• dbSNP Id: rs752298916
• ExAC: 1:193094311 G / A
• gnomAD v2: 1-193094311-G-A
• gnomAD v3: 1-193125181-G-A
• gnomAD v4: 1-193125181-G-A
• MyVariant Identifiers: chr1:g.193094311G>A (hg19) ; chr1:g.193125181G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.193125181G>A , CM000663.2:g.193125181G>A	GRCh38
NC_000001.10:g.193094311G>A , CM000663.1:g.193094311G>A	GRCh37
NC_000001.9:g.191360934G>A	NCBI36
NG_012691.1:g.8224G>A , LRG_507:g.8224G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367435.5:c.201G>A MANE Select	ENSP00000356405.4:p.Val67=
ENST00000635846.1:c.201G>A	ENSP00000490035.1:p.Val67=
ENST00000643006.1:c.201G>A	ENSP00000496633.1:p.Val67=
ENST00000643784.1:c.201G>A	ENSP00000494944.1:p.Val67=
ENST00000647662.1:n.102G>A
ENST00000648071.1:c.201G>A	ENSP00000497513.1:p.Val67=
ENST00000649606.1:n.214G>A
ENST00000649706.1:n.142G>A
ENST00000649895.1:n.419G>A
ENST00000650197.1:c.201G>A	ENSP00000496929.1:p.Val67=
ENST00000367435.3:c.201G>A	ENSP00000356405.3:p.Val67=
ENST00000482484.1:n.162G>A
NM_024529.4:c.201G>A , LRG_507t1:c.201G>A	NP_078805.3:p.Val67=
XM_006711537.2:c.201G>A	XP_006711600.1:p.Val67=
XR_241165.2:n.304-874C>T
XM_006711537.4:c.201G>A	XP_006711600.1:p.Val67=
NM_024529.5:c.201G>A MANE Select	NP_078805.3:p.Val67=