Canonical Allele Identifier: CA8500949
Gene: UNC45B HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.35155503G>A , CM000679.2:g.35155503G>A GRCh38
NC_000017.10:g.33482522G>A , CM000679.1:g.33482522G>A GRCh37
NC_000017.9:g.30506635G>A NCBI36
NG_042129.1:g.12687G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000394570.7:c.808+39G>A MANE Select ENSP00000378071.2:n.808+39G>A
ENST00000268876.9:c.808+39G>A ENSP00000268876.4:n.808+39G>A
ENST00000394570.6:c.808+39G>A ENSP00000378071.2:n.808+39G>A
ENST00000591048.2:c.808+39G>A ENSP00000468335.1:n.808+39G>A
NM_001033576.1:c.808+39G>A NP_001028748.1:n.808+39G>A
NM_001267052.1:c.808+39G>A NP_001253981.1:n.808+39G>A
NM_001308281.1:c.808+39G>A NP_001295210.1:n.808+39G>A
NM_173167.2:c.808+39G>A NP_775259.1:n.808+39G>A
NM_173167.3:c.808+39G>A NP_775259.1:n.808+39G>A
XM_017024234.1:c.808+39G>A XP_016879723.1:n.808+39G>A
NM_001033576.2:c.808+39G>A NP_001028748.1:n.808+39G>A
NM_001267052.2:c.808+39G>A MANE Select NP_001253981.1:n.808+39G>A