Canonical Allele Identifier: CA4852598

Gene: UTP23

Linked Data

• dbSNP Id: rs769304392
• ExAC: 8:117783867 A / G
• gnomAD v4: 8-116771628-A-G
• MyVariant Identifiers: chr8:g.117783867A>G (hg19) ; chr8:g.116771628A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.116771628A>G , CM000670.2:g.116771628A>G	GRCh38
NC_000008.10:g.117783867A>G , CM000670.1:g.117783867A>G	GRCh37
NC_000008.9:g.117853048A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309822.7:c.536A>G MANE Select	ENSP00000308332.2:p.Lys179Arg
ENST00000309822.6:c.536A>G	ENSP00000308332.2:p.Lys179Arg
ENST00000517814.1:c.363+1262A>G	ENSP00000429962.1:n.363+1262A>G
ENST00000517820.1:c.188+4837A>G	ENSP00000427767.1:n.188+4837A>G
ENST00000520733.5:c.45+1262A>G	ENSP00000429384.1:n.45+1262A>G
ENST00000521071.1:c.188+4837A>G	ENSP00000430029.1:n.188+4837A>G
ENST00000521703.5:c.188+4837A>G	ENSP00000428455.1:n.188+4837A>G
ENST00000521974.1:n.442A>G
ENST00000524128.1:c.45+1262A>G	ENSP00000430309.1:n.45+1262A>G
NM_032334.2:c.536A>G	NP_115710.2:p.Lys179Arg
XM_005251080.2:c.363+1262A>G	XP_005251137.2:n.363+1262A>G
XR_928356.1:n.411+1262A>G
XR_928357.1:n.411+1262A>G
NM_032334.3:c.536A>G MANE Select	NP_115710.2:p.Lys179Arg