Canonical Allele Identifier: CA372073915
Gene: UTP23 HGNC NCBI

Linked Data

dbSNP Id: rs777965250

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.116771808T>C , CM000670.2:g.116771808T>C GRCh38
NC_000008.10:g.117784047T>C , CM000670.1:g.117784047T>C GRCh37
NC_000008.9:g.117853228T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000309822.7:c.716T>C MANE Select ENSP00000308332.2:p.Val239Ala
ENST00000309822.6:c.716T>C ENSP00000308332.2:p.Val239Ala
ENST00000517814.1:c.363+1442T>C ENSP00000429962.1:n.363+1442T>C
ENST00000517820.1:c.188+5017T>C ENSP00000427767.1:n.188+5017T>C
ENST00000520733.5:c.45+1442T>C ENSP00000429384.1:n.45+1442T>C
ENST00000521071.1:c.188+5017T>C ENSP00000430029.1:n.188+5017T>C
ENST00000521703.5:c.188+5017T>C ENSP00000428455.1:n.188+5017T>C
ENST00000524128.1:c.45+1442T>C ENSP00000430309.1:n.45+1442T>C
NM_032334.2:c.716T>C NP_115710.2:p.Val239Ala
XM_005251080.2:c.363+1442T>C XP_005251137.2:n.363+1442T>C
XR_928356.1:n.411+1442T>C
XR_928357.1:n.411+1442T>C
NM_032334.3:c.716T>C MANE Select NP_115710.2:p.Val239Ala