Canonical Allele Identifier: CA372073915

Gene: UTP23

Linked Data

• dbSNP Id: rs777965250
• gnomAD v3: 8-116771808-T-C
• gnomAD v4: 8-116771808-T-C
• MyVariant Identifiers: chr8:g.117784047T>C (hg19) ; chr8:g.116771808T>C (hg38)

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