Canonical Allele Identifier: CA8500770
Gene: UNC45B HGNC NCBI
COSMIC:
COSN26580649 (not active)
MyVariant.info:
GRCh38 chr17:g.35151166C>G
GRCh37 chr17:g.33478185C>G
gnomAD v2:
17:33478185 C / G
gnomAD v3:
17:35151166 C / G
gnomAD v4:
chr17-35151166-C-G
Joint Max Group AF 0.67417594 (SAS)
Genomes Max Group AF 0.69760188 (SAS)
Exomes Max Group AF 0.66754027 (SAS)
dbSNP:
4796042
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.35151166C>G , CM000679.2:g.35151166C>G GRCh38
NC_000017.10:g.33478185C>G , CM000679.1:g.33478185C>G GRCh37
NC_000017.9:g.30502298C>G NCBI36
NG_042129.1:g.8350C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000394570.7:c.381+943C>G MANE Select ENSP00000378071.2:n.381+943C>G
ENST00000268876.9:c.381+943C>G ENSP00000268876.4:n.381+943C>G
ENST00000394570.6:c.381+943C>G ENSP00000378071.2:n.381+943C>G
ENST00000591048.2:c.381+943C>G ENSP00000468335.1:n.381+943C>G
NM_001033576.1:c.381+943C>G NP_001028748.1:n.381+943C>G
NM_001267052.1:c.381+943C>G NP_001253981.1:n.381+943C>G
NM_001308281.1:c.381+943C>G NP_001295210.1:n.381+943C>G
NM_173167.2:c.381+943C>G NP_775259.1:n.381+943C>G
NM_173167.3:c.381+943C>G NP_775259.1:n.381+943C>G
XM_017024234.1:c.381+943C>G XP_016879723.1:n.381+943C>G
NM_001033576.2:c.381+943C>G NP_001028748.1:n.381+943C>G
NM_001267052.2:c.381+943C>G MANE Select NP_001253981.1:n.381+943C>G
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