Canonical Allele Identifier: CA288225
Gene: HOXB13 HGNC NCBI

Linked Data

ClinVar Variation Id: 128031
dbSNP Id: rs138213197
CIViC: CA288225

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.48728343C>T , CM000679.2:g.48728343C>T GRCh38
NC_000017.10:g.46805705C>T , CM000679.1:g.46805705C>T GRCh37
NC_000017.9:g.44160704C>T NCBI36
NG_033789.1:g.5407G>A , LRG_771:g.5407G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000290295.7:c.251G>A ENSP00000290295.7:p.Gly84Glu
NM_006361.5:c.251G>A , LRG_771t1:c.251G>A NP_006352.2:p.Gly84Glu
NM_006361.6:c.251G>A MANE Select NP_006352.2:p.Gly84Glu