Canonical Allele Identifier: CA16609973

Gene: CDC73

Linked Data

• ClinVar Variation Id: 403896
• ClinVar RCV Id: RCV000461848 ; RCV002356631 ; RCV002488996 ; RCV003463839
• dbSNP Id: rs1060500021
• gnomAD v4: 1-193203840-G-A
• MyVariant Identifiers: chr1:g.193172970G>A (hg19) ; chr1:g.193203840G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.193203840G>A , CM000663.2:g.193203840G>A	GRCh38
NC_000001.10:g.193172970G>A , CM000663.1:g.193172970G>A	GRCh37
NC_000001.9:g.191439593G>A	NCBI36
NG_012691.1:g.86883G>A , LRG_507:g.86883G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367435.5:c.1018G>A MANE Select	ENSP00000356405.4:p.Val340Ile
ENST00000635846.1:c.775G>A	ENSP00000490035.1:p.Val259Ile
ENST00000643006.1:c.1086G>A	ENSP00000496633.1:p.Gln362=
ENST00000648071.1:c.*994G>A	ENSP00000497513.1:n.*994G>A
ENST00000649613.1:n.268G>A
ENST00000649895.1:n.1236G>A
ENST00000650197.1:c.1018G>A	ENSP00000496929.1:p.Val340Ile
ENST00000367435.3:c.1018G>A	ENSP00000356405.3:p.Val340Ile
NM_024529.4:c.1018G>A , LRG_507t1:c.1018G>A	NP_078805.3:p.Val340Ile
NM_024529.5:c.1018G>A MANE Select	NP_078805.3:p.Val340Ile