Canonical Allele Identifier: CA8632962
Gene: HOXB5 HGNC NCBI
HOXB3 HGNC NCBI
HOXB-AS3 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.48593342G>A
GRCh37 chr17:g.46670704G>A
Revel Score:
ENST00000239151 (MANE Select) 0.186
gnomAD v2:
17:46670704 G / A
gnomAD v3:
17:48593342 G / A
gnomAD v4:
chr17-48593342-G-A
Joint Max Group AF 0.00003002 (NFE)
Exomes Max Group AF 0.000031 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.48593342G>A , CM000679.2:g.48593342G>A GRCh38
NC_000017.10:g.46670704G>A , CM000679.1:g.46670704G>A GRCh37
NC_000017.9:g.44025703G>A NCBI36
NG_046953.1:g.16651C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000239151.6:c.341C>T (HOXB5) MANE Select ENSP00000239151.4:p.Ala114Val
ENST00000239151.5:c.341C>T (HOXB5) ENSP00000239151.4:p.Ala114Val
ENST00000552000.2:n.433+11138C>T (HOXB3)
NM_002147.3:c.341C>T (HOXB5) NP_002138.1:p.Ala114Val
NR_033201.2:n.170+2753G>A (HOXB-AS3)
NR_033202.2:n.170+2753G>A (HOXB-AS3)
NR_033203.1:n.73+978G>A (HOXB-AS3)
NR_033204.2:n.73+978G>A (HOXB-AS3)
NR_110329.1:n.73+978G>A (HOXB-AS3)
NR_110331.1:n.170+2753G>A (HOXB-AS3)
NM_002147.4:c.341C>T (HOXB5) MANE Select NP_002138.1:p.Ala114Val
Search 100 bp 5'
Search 100 bp 3'