Canonical Allele Identifier: CA1813483943
Gene: UTP23 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.116771477G= , CM000670.2:g.116771477G= GRCh38
NC_000008.10:g.117783716G= , CM000670.1:g.117783716G= GRCh37
NC_000008.9:g.117852897G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000309822.7:c.385G= MANE Select ENSP00000308332.2:p.Val129=
ENST00000309822.6:c.385G= ENSP00000308332.2:p.Val129=
ENST00000517814.1:c.363+1111G= ENSP00000429962.1:n.363+1111G=
ENST00000517820.1:c.188+4686G= ENSP00000427767.1:n.188+4686G=
ENST00000520733.5:c.45+1111G= ENSP00000429384.1:n.45+1111G=
ENST00000521071.1:c.188+4686G= ENSP00000430029.1:n.188+4686G=
ENST00000521703.5:c.188+4686G= ENSP00000428455.1:n.188+4686G=
ENST00000521974.1:n.291G=
ENST00000524128.1:c.45+1111G= ENSP00000430309.1:n.45+1111G=
NM_032334.2:c.385G= NP_115710.2:p.Val129=
XM_005251080.2:c.363+1111G= XP_005251137.2:n.363+1111G=
XR_928356.1:n.411+1111G=
XR_928357.1:n.411+1111G=
NM_032334.3:c.385G= MANE Select NP_115710.2:p.Val129=