Canonical Allele Identifier: CA372072749

Gene: UTP23

Linked Data

• dbSNP Id: rs1361949752
• gnomAD v2: 8-117783828-T-C
• gnomAD v4: 8-116771589-T-C
• MyVariant Identifiers: chr8:g.117783828T>C (hg19) ; chr8:g.116771589T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.116771589T>C , CM000670.2:g.116771589T>C	GRCh38
NC_000008.10:g.117783828T>C , CM000670.1:g.117783828T>C	GRCh37
NC_000008.9:g.117853009T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000309822.7:c.497T>C MANE Select	ENSP00000308332.2:p.Leu166Pro
ENST00000309822.6:c.497T>C	ENSP00000308332.2:p.Leu166Pro
ENST00000517814.1:c.363+1223T>C	ENSP00000429962.1:n.363+1223T>C
ENST00000517820.1:c.188+4798T>C	ENSP00000427767.1:n.188+4798T>C
ENST00000520733.5:c.45+1223T>C	ENSP00000429384.1:n.45+1223T>C
ENST00000521071.1:c.188+4798T>C	ENSP00000430029.1:n.188+4798T>C
ENST00000521703.5:c.188+4798T>C	ENSP00000428455.1:n.188+4798T>C
ENST00000521974.1:n.403T>C
ENST00000524128.1:c.45+1223T>C	ENSP00000430309.1:n.45+1223T>C
NM_032334.2:c.497T>C	NP_115710.2:p.Leu166Pro
XM_005251080.2:c.363+1223T>C	XP_005251137.2:n.363+1223T>C
XR_928356.1:n.411+1223T>C
XR_928357.1:n.411+1223T>C
NM_032334.3:c.497T>C MANE Select	NP_115710.2:p.Leu166Pro