Canonical Allele Identifier: CA1813484199
Gene: UTP23 HGNC NCBI

Linked Data

dbSNP Id: rs1815654318

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.116771653dup , CM000670.2:g.116771653dup GRCh38
NC_000008.10:g.117783892dup , CM000670.1:g.117783892dup GRCh37
NC_000008.9:g.117853073dup NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000309822.7:c.561dup MANE Select ENSP00000308332.2:p.Thr188HisfsTer2
ENST00000309822.6:c.561dup ENSP00000308332.2:p.Thr188HisfsTer2
ENST00000517814.1:c.363+1287dup ENSP00000429962.1:n.363+1287dup
ENST00000517820.1:c.188+4862dup ENSP00000427767.1:n.188+4862dup
ENST00000520733.5:c.45+1287dup ENSP00000429384.1:n.45+1287dup
ENST00000521071.1:c.188+4862dup ENSP00000430029.1:n.188+4862dup
ENST00000521703.5:c.188+4862dup ENSP00000428455.1:n.188+4862dup
ENST00000521974.1:n.467dup
ENST00000524128.1:c.45+1287dup ENSP00000430309.1:n.45+1287dup
NM_032334.2:c.561dup NP_115710.2:p.Thr188HisfsTer2
XM_005251080.2:c.363+1287dup XP_005251137.2:n.363+1287dup
XR_928356.1:n.411+1287dup
XR_928357.1:n.411+1287dup
NM_032334.3:c.561dup MANE Select NP_115710.2:p.Thr188HisfsTer2