Canonical Allele Identifier: CA6772541

Gene: UNG

Linked Data

• ClinVar Variation Id: 440391
• ClinVar RCV Id: RCV000506946 ; RCV000687269
• dbSNP Id: rs151095402
• ExAC: 12:109536366 C / T
• gnomAD v2: 12-109536366-C-T
• gnomAD v3: 12-109098561-C-T
• gnomAD v4: 12-109098561-C-T
• MyVariant Identifiers: chr12:g.109536366C>T (hg19) ; chr12:g.109098561C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109098561C>T , CM000674.2:g.109098561C>T	GRCh38
NC_000012.11:g.109536366C>T , CM000674.1:g.109536366C>T	GRCh37
NC_000012.10:g.108020749C>T	NCBI36
NG_007284.1:g.5952C>T , LRG_124:g.5952C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000539287.6:c.235C>T	ENSP00000440784.1:p.Arg79Cys
ENST00000699559.1:c.235C>T	ENSP00000514433.1:p.Arg79Cys
ENST00000699560.1:c.235C>T	ENSP00000514434.1:p.Arg79Cys
ENST00000699561.1:c.235C>T	ENSP00000514435.1:p.Arg79Cys
ENST00000699562.1:c.235C>T	ENSP00000514436.1:p.Arg79Cys
ENST00000699563.1:c.235C>T	ENSP00000514437.1:p.Arg79Cys
ENST00000699564.1:c.235C>T	ENSP00000514438.1:p.Arg79Cys
ENST00000699565.1:c.235C>T	ENSP00000514439.1:p.Arg79Cys
ENST00000699566.1:c.235C>T	ENSP00000514440.1:p.Arg79Cys
ENST00000699567.1:c.235C>T	ENSP00000514441.1:p.Arg79Cys
ENST00000242576.7:c.262C>T MANE Select	ENSP00000242576.3:p.Arg88Cys
ENST00000242576.6:c.262C>T	ENSP00000242576.2:p.Arg88Cys
ENST00000336865.6:c.235C>T	ENSP00000337398.2:p.Arg79Cys
ENST00000446767.2:c.235C>T	ENSP00000400287.2:p.Arg79Cys
ENST00000539287.5:c.235C>T	ENSP00000440784.1:p.Arg79Cys
ENST00000540158.1:n.263C>T
NM_003362.3:c.235C>T	NP_003353.1:p.Arg79Cys
NM_080911.2:c.262C>T	NP_550433.1:p.Arg88Cys
NM_003362.4:c.235C>T	NP_003353.1:p.Arg79Cys
NM_080911.3:c.262C>T MANE Select	NP_550433.1:p.Arg88Cys