Canonical Allele Identifier: CA500661900
Gene: HOXB13 HGNC NCBI

Linked Data

dbSNP Id: rs757423683
gnomAD v4: 17-48728261-C-G
MyVariant Identifiers: chr17:g.46805623C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.48728261C>G , CM000679.2:g.48728261C>G GRCh38
NC_000017.10:g.46805623C>G , CM000679.1:g.46805623C>G GRCh37
NC_000017.9:g.44160622C>G NCBI36
NG_033789.1:g.5489G>C , LRG_771:g.5489G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000290295.8:c.333G>C MANE Select ENSP00000290295.8:p.Ala111=
ENST00000290295.7:c.333G>C ENSP00000290295.7:p.Ala111=
NM_006361.5:c.333G>C , LRG_771t1:c.333G>C NP_006352.2:p.Ala111=
NM_006361.6:c.333G>C MANE Select NP_006352.2:p.Ala111=
Search 100 bp 5'
Search 100 bp 3'