Canonical Allele Identifier: CA400105171
Gene: HOXB13 HGNC NCBI

Linked Data

ClinVar Variation Id: 1514664
dbSNP Id: rs2143065098

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.48726800G>A , CM000679.2:g.48726800G>A GRCh38
NC_000017.10:g.46804162G>A , CM000679.1:g.46804162G>A GRCh37
NC_000017.9:g.44159161G>A NCBI36
NG_033789.1:g.6950C>T , LRG_771:g.6950C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000290295.8:c.845C>T MANE Select ENSP00000290295.8:p.Ala282Val
ENST00000290295.7:c.845C>T ENSP00000290295.7:p.Ala282Val
NM_006361.5:c.845C>T , LRG_771t1:c.845C>T NP_006352.2:p.Ala282Val
NM_006361.6:c.845C>T MANE Select NP_006352.2:p.Ala282Val