Canonical Allele Identifier: CA1813484569

Gene: UTP23

Linked Data

• dbSNP Id: rs1815662274
• gnomAD v4: 8-116771930-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.116771930T>A , CM000670.2:g.116771930T>A	GRCh38
NC_000008.10:g.117784169T>A , CM000670.1:g.117784169T>A	GRCh37
NC_000008.9:g.117853350T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309822.7:c.*88T>A MANE Select	ENSP00000308332.2:n.*88T>A
ENST00000309822.6:c.*88T>A	ENSP00000308332.2:n.*88T>A
ENST00000517814.1:c.363+1564T>A	ENSP00000429962.1:n.363+1564T>A
ENST00000517820.1:c.188+5139T>A	ENSP00000427767.1:n.188+5139T>A
ENST00000520733.5:c.45+1564T>A	ENSP00000429384.1:n.45+1564T>A
ENST00000521071.1:c.188+5139T>A	ENSP00000430029.1:n.188+5139T>A
ENST00000521703.5:c.188+5139T>A	ENSP00000428455.1:n.188+5139T>A
ENST00000524128.1:c.45+1564T>A	ENSP00000430309.1:n.45+1564T>A
NM_032334.2:c.*88T>A	NP_115710.2:n.*88T>A
XM_005251080.2:c.363+1564T>A	XP_005251137.2:n.363+1564T>A
XR_928356.1:n.411+1564T>A
XR_928357.1:n.411+1564T>A
NM_032334.3:c.*88T>A MANE Select	NP_115710.2:n.*88T>A