Canonical Allele Identifier: CA846142061

Gene: UTP23

Linked Data

• dbSNP Id: rs1238649461
• gnomAD v3: 8-116771232-C-T
• gnomAD v4: 8-116771232-C-T
• MyVariant Identifiers: chr8:g.117783471C>T (hg19) ; chr8:g.116771232C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.116771232C>T , CM000670.2:g.116771232C>T	GRCh38
NC_000008.10:g.117783471C>T , CM000670.1:g.117783471C>T	GRCh37
NC_000008.9:g.117852652C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309822.7:c.364-224C>T MANE Select	ENSP00000308332.2:n.364-224C>T
ENST00000309822.6:c.364-224C>T	ENSP00000308332.2:n.364-224C>T
ENST00000517814.1:c.363+866C>T	ENSP00000429962.1:n.363+866C>T
ENST00000517820.1:c.188+4441C>T	ENSP00000427767.1:n.188+4441C>T
ENST00000520733.5:c.45+866C>T	ENSP00000429384.1:n.45+866C>T
ENST00000521071.1:c.188+4441C>T	ENSP00000430029.1:n.188+4441C>T
ENST00000521703.5:c.188+4441C>T	ENSP00000428455.1:n.188+4441C>T
ENST00000521974.1:n.270-224C>T
ENST00000524128.1:c.45+866C>T	ENSP00000430309.1:n.45+866C>T
NM_032334.2:c.364-224C>T	NP_115710.2:n.364-224C>T
XM_005251080.2:c.363+866C>T	XP_005251137.2:n.363+866C>T
XR_928356.1:n.411+866C>T
XR_928357.1:n.411+866C>T
NM_032334.3:c.364-224C>T MANE Select	NP_115710.2:n.364-224C>T