Canonical Allele Identifier: CA4852614

Gene: UTP23

Linked Data

• dbSNP Id: rs1554604928
• ExAC: 8:117783921 A / G
• gnomAD v2: 8-117783921-A-G
• gnomAD v4: 8-116771682-A-G
• MyVariant Identifiers: chr8:g.117783921A>G (hg19) ; chr8:g.117783921_117783922delinsGG (hg19) ; chr8:g.116771682A>G (hg38) ; chr8:g.116771682_116771683delinsGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.116771682A>G , CM000670.2:g.116771682A>G	GRCh38
NC_000008.10:g.117783921A>G , CM000670.1:g.117783921A>G	GRCh37
NC_000008.9:g.117853102A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000309822.7:c.590A>G MANE Select	ENSP00000308332.2:p.Lys197Arg
ENST00000309822.6:c.590A>G	ENSP00000308332.2:p.Lys197Arg
ENST00000517814.1:c.363+1316A>G	ENSP00000429962.1:n.363+1316A>G
ENST00000517820.1:c.188+4891A>G	ENSP00000427767.1:n.188+4891A>G
ENST00000520733.5:c.45+1316A>G	ENSP00000429384.1:n.45+1316A>G
ENST00000521071.1:c.188+4891A>G	ENSP00000430029.1:n.188+4891A>G
ENST00000521703.5:c.188+4891A>G	ENSP00000428455.1:n.188+4891A>G
ENST00000521974.1:n.496A>G
ENST00000524128.1:c.45+1316A>G	ENSP00000430309.1:n.45+1316A>G
NM_032334.2:c.590A>G	NP_115710.2:p.Lys197Arg
XM_005251080.2:c.363+1316A>G	XP_005251137.2:n.363+1316A>G
XR_928356.1:n.411+1316A>G
XR_928357.1:n.411+1316A>G
NM_032334.3:c.590A>G MANE Select	NP_115710.2:p.Lys197Arg