Canonical Allele Identifier: CA372072669

Gene: UTP23

Linked Data

• gnomAD v4: 8-116771582-G-A
• MyVariant Identifiers: chr8:g.117783821G>A (hg19) ; chr8:g.116771582G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.116771582G>A , CM000670.2:g.116771582G>A	GRCh38
NC_000008.10:g.117783821G>A , CM000670.1:g.117783821G>A	GRCh37
NC_000008.9:g.117853002G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000309822.7:c.490G>A MANE Select	ENSP00000308332.2:p.Gly164Ser
ENST00000309822.6:c.490G>A	ENSP00000308332.2:p.Gly164Ser
ENST00000517814.1:c.363+1216G>A	ENSP00000429962.1:n.363+1216G>A
ENST00000517820.1:c.188+4791G>A	ENSP00000427767.1:n.188+4791G>A
ENST00000520733.5:c.45+1216G>A	ENSP00000429384.1:n.45+1216G>A
ENST00000521071.1:c.188+4791G>A	ENSP00000430029.1:n.188+4791G>A
ENST00000521703.5:c.188+4791G>A	ENSP00000428455.1:n.188+4791G>A
ENST00000521974.1:n.396G>A
ENST00000524128.1:c.45+1216G>A	ENSP00000430309.1:n.45+1216G>A
NM_032334.2:c.490G>A	NP_115710.2:p.Gly164Ser
XM_005251080.2:c.363+1216G>A	XP_005251137.2:n.363+1216G>A
XR_928356.1:n.411+1216G>A
XR_928357.1:n.411+1216G>A
NM_032334.3:c.490G>A MANE Select	NP_115710.2:p.Gly164Ser