Canonical Allele Identifier: CA4852607

Gene: UTP23

Linked Data

• dbSNP Id: rs761849033
• ExAC: 8:117783909 G / GA
• gnomAD v2: 8-117783909-G-GA
• gnomAD v3: 8-116771670-G-GA
• gnomAD v4: 8-116771670-G-GA
• MyVariant Identifiers: chr8:g.117783909_117783910insA (hg19) ; chr8:g.116771670_116771671insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.116771676dup , CM000670.2:g.116771676dup	GRCh38
NC_000008.10:g.117783915dup , CM000670.1:g.117783915dup	GRCh37
NC_000008.9:g.117853096dup	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000309822.7:c.584dup MANE Select	ENSP00000308332.2:p.Arg196AlafsTer11
ENST00000309822.6:c.584dup	ENSP00000308332.2:p.Arg196AlafsTer11
ENST00000517814.1:c.363+1310dup	ENSP00000429962.1:n.363+1310dup
ENST00000517820.1:c.188+4885dup	ENSP00000427767.1:n.188+4885dup
ENST00000520733.5:c.45+1310dup	ENSP00000429384.1:n.45+1310dup
ENST00000521071.1:c.188+4885dup	ENSP00000430029.1:n.188+4885dup
ENST00000521703.5:c.188+4885dup	ENSP00000428455.1:n.188+4885dup
ENST00000521974.1:n.490dup
ENST00000524128.1:c.45+1310dup	ENSP00000430309.1:n.45+1310dup
NM_032334.2:c.584dup	NP_115710.2:p.Arg196AlafsTer11
XM_005251080.2:c.363+1310dup	XP_005251137.2:n.363+1310dup
XR_928356.1:n.411+1310dup
XR_928357.1:n.411+1310dup
NM_032334.3:c.584dup MANE Select	NP_115710.2:p.Arg196AlafsTer11