Canonical Allele Identifier: CA372072736

Gene: UTP23

Linked Data

• gnomAD v4: 8-116771588-C-T
• MyVariant Identifiers: chr8:g.117783827C>T (hg19) ; chr8:g.116771588C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.116771588C>T , CM000670.2:g.116771588C>T	GRCh38
NC_000008.10:g.117783827C>T , CM000670.1:g.117783827C>T	GRCh37
NC_000008.9:g.117853008C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000309822.7:c.496C>T MANE Select	ENSP00000308332.2:p.Leu166Phe
ENST00000309822.6:c.496C>T	ENSP00000308332.2:p.Leu166Phe
ENST00000517814.1:c.363+1222C>T	ENSP00000429962.1:n.363+1222C>T
ENST00000517820.1:c.188+4797C>T	ENSP00000427767.1:n.188+4797C>T
ENST00000520733.5:c.45+1222C>T	ENSP00000429384.1:n.45+1222C>T
ENST00000521071.1:c.188+4797C>T	ENSP00000430029.1:n.188+4797C>T
ENST00000521703.5:c.188+4797C>T	ENSP00000428455.1:n.188+4797C>T
ENST00000521974.1:n.402C>T
ENST00000524128.1:c.45+1222C>T	ENSP00000430309.1:n.45+1222C>T
NM_032334.2:c.496C>T	NP_115710.2:p.Leu166Phe
XM_005251080.2:c.363+1222C>T	XP_005251137.2:n.363+1222C>T
XR_928356.1:n.411+1222C>T
XR_928357.1:n.411+1222C>T
NM_032334.3:c.496C>T MANE Select	NP_115710.2:p.Leu166Phe