Canonical Allele Identifier: CA1118280009

Gene: UTP23

Linked Data

• dbSNP Id: rs1815646510
• gnomAD v3: 8-116771228-G-GT
• gnomAD v4: 8-116771228-G-GT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.116771229dup , CM000670.2:g.116771229dup	GRCh38
NC_000008.10:g.117783468dup , CM000670.1:g.117783468dup	GRCh37
NC_000008.9:g.117852649dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309822.7:c.364-227dup MANE Select	ENSP00000308332.2:n.364-227dup
ENST00000309822.6:c.364-227dup	ENSP00000308332.2:n.364-227dup
ENST00000517814.1:c.363+863dup	ENSP00000429962.1:n.363+863dup
ENST00000517820.1:c.188+4438dup	ENSP00000427767.1:n.188+4438dup
ENST00000520733.5:c.45+863dup	ENSP00000429384.1:n.45+863dup
ENST00000521071.1:c.188+4438dup	ENSP00000430029.1:n.188+4438dup
ENST00000521703.5:c.188+4438dup	ENSP00000428455.1:n.188+4438dup
ENST00000521974.1:n.270-227dup
ENST00000524128.1:c.45+863dup	ENSP00000430309.1:n.45+863dup
NM_032334.2:c.364-227dup	NP_115710.2:n.364-227dup
XM_005251080.2:c.363+863dup	XP_005251137.2:n.363+863dup
XR_928356.1:n.411+863dup
XR_928357.1:n.411+863dup
NM_032334.3:c.364-227dup MANE Select	NP_115710.2:n.364-227dup