Canonical Allele Identifier: CA288227
Gene: HOXB13 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.48728228G>T
GRCh37 chr17:g.46805590G>T
Revel Score:
ENST00000290295 (MANE Select) 0.153
gnomAD v2:
17:46805590 G / T
gnomAD v3:
17:48728228 G / T
gnomAD v4:
chr17-48728228-G-T
Joint Max Group AF 0.00003584 (NFE)
Genomes Max Group AF 0.00005843 (NFE)
Exomes Max Group AF 0.00003171 (NFE)
ClinVar RCV:
RCV000115970
RCV001020842
ClinVar Variation:
128032
dbSNP:
8556
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.48728228G>T , CM000679.2:g.48728228G>T GRCh38
NC_000017.10:g.46805590G>T , CM000679.1:g.46805590G>T GRCh37
NC_000017.9:g.44160589G>T NCBI36
NG_033789.1:g.5522C>A , LRG_771:g.5522C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000290295.8:c.366C>A MANE Select ENSP00000290295.8:p.Ser122Arg
ENST00000290295.7:c.366C>A ENSP00000290295.7:p.Ser122Arg
NM_006361.5:c.366C>A , LRG_771t1:c.366C>A NP_006352.2:p.Ser122Arg
NM_006361.6:c.366C>A MANE Select NP_006352.2:p.Ser122Arg
Search 100 bp 5'
Search 100 bp 3'