Canonical Allele Identifier: CA372073364

Gene: UTP23

Linked Data

• dbSNP Id: rs202234937
• gnomAD v2: 8-117783918-G-T
• gnomAD v3: 8-116771679-G-T
• gnomAD v4: 8-116771679-G-T
• MyVariant Identifiers: chr8:g.117783918G>T (hg19) ; chr8:g.116771679G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.116771679G>T , CM000670.2:g.116771679G>T	GRCh38
NC_000008.10:g.117783918G>T , CM000670.1:g.117783918G>T	GRCh37
NC_000008.9:g.117853099G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000309822.7:c.587G>T MANE Select	ENSP00000308332.2:p.Arg196Leu
ENST00000309822.6:c.587G>T	ENSP00000308332.2:p.Arg196Leu
ENST00000517814.1:c.363+1313G>T	ENSP00000429962.1:n.363+1313G>T
ENST00000517820.1:c.188+4888G>T	ENSP00000427767.1:n.188+4888G>T
ENST00000520733.5:c.45+1313G>T	ENSP00000429384.1:n.45+1313G>T
ENST00000521071.1:c.188+4888G>T	ENSP00000430029.1:n.188+4888G>T
ENST00000521703.5:c.188+4888G>T	ENSP00000428455.1:n.188+4888G>T
ENST00000521974.1:n.493G>T
ENST00000524128.1:c.45+1313G>T	ENSP00000430309.1:n.45+1313G>T
NM_032334.2:c.587G>T	NP_115710.2:p.Arg196Leu
XM_005251080.2:c.363+1313G>T	XP_005251137.2:n.363+1313G>T
XR_928356.1:n.411+1313G>T
XR_928357.1:n.411+1313G>T
NM_032334.3:c.587G>T MANE Select	NP_115710.2:p.Arg196Leu