Canonical Allele Identifier: CA4852613

Gene: UTP23

Linked Data

• dbSNP Id: rs758707424
• ExAC: 8:117783919 C / T
• gnomAD v4: 8-116771680-C-T
• MyVariant Identifiers: chr8:g.117783919C>T (hg19) ; chr8:g.116771680C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.116771680C>T , CM000670.2:g.116771680C>T	GRCh38
NC_000008.10:g.117783919C>T , CM000670.1:g.117783919C>T	GRCh37
NC_000008.9:g.117853100C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000309822.7:c.588C>T MANE Select	ENSP00000308332.2:p.Arg196=
ENST00000309822.6:c.588C>T	ENSP00000308332.2:p.Arg196=
ENST00000517814.1:c.363+1314C>T	ENSP00000429962.1:n.363+1314C>T
ENST00000517820.1:c.188+4889C>T	ENSP00000427767.1:n.188+4889C>T
ENST00000520733.5:c.45+1314C>T	ENSP00000429384.1:n.45+1314C>T
ENST00000521071.1:c.188+4889C>T	ENSP00000430029.1:n.188+4889C>T
ENST00000521703.5:c.188+4889C>T	ENSP00000428455.1:n.188+4889C>T
ENST00000521974.1:n.494C>T
ENST00000524128.1:c.45+1314C>T	ENSP00000430309.1:n.45+1314C>T
NM_032334.2:c.588C>T	NP_115710.2:p.Arg196=
XM_005251080.2:c.363+1314C>T	XP_005251137.2:n.363+1314C>T
XR_928356.1:n.411+1314C>T
XR_928357.1:n.411+1314C>T
NM_032334.3:c.588C>T MANE Select	NP_115710.2:p.Arg196=