Canonical Allele Identifier: CA1303423

Gene: CDC73

Linked Data

• ClinVar Variation Id: 1751437
• ClinVar RCV Id: RCV002359985 ; RCV003607473
• dbSNP Id: rs748060117
• ExAC: 1:193111074 G / A
• gnomAD v2: 1-193111074-G-A
• gnomAD v4: 1-193141944-G-A
• MyVariant Identifiers: chr1:g.193111074G>A (hg19) ; chr1:g.193141944G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.193141944G>A , CM000663.2:g.193141944G>A	GRCh38
NC_000001.10:g.193111074G>A , CM000663.1:g.193111074G>A	GRCh37
NC_000001.9:g.191377697G>A	NCBI36
NG_012691.1:g.24987G>A , LRG_507:g.24987G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367435.5:c.607G>A MANE Select	ENSP00000356405.4:p.Asp203Asn
ENST00000635846.1:c.607G>A	ENSP00000490035.1:p.Asp203Asn
ENST00000643006.1:c.607G>A	ENSP00000496633.1:p.Asp203Asn
ENST00000643784.1:c.*83G>A	ENSP00000494944.1:n.*83G>A
ENST00000647662.1:n.508G>A
ENST00000648071.1:c.*583G>A	ENSP00000497513.1:n.*583G>A
ENST00000649606.1:n.620G>A
ENST00000649706.1:n.548G>A
ENST00000649895.1:n.825G>A
ENST00000650197.1:c.607G>A	ENSP00000496929.1:p.Asp203Asn
ENST00000367435.3:c.607G>A	ENSP00000356405.3:p.Asp203Asn
NM_024529.4:c.607G>A , LRG_507t1:c.607G>A	NP_078805.3:p.Asp203Asn
XM_006711537.2:c.607G>A	XP_006711600.1:p.Asp203Asn
XM_006711537.4:c.607G>A	XP_006711600.1:p.Asp203Asn
NM_024529.5:c.607G>A MANE Select	NP_078805.3:p.Asp203Asn