Canonical Allele Identifier: CA400107845
Gene: HOXB13 HGNC NCBI

Linked Data

ClinVar Variation Id: 2840201
ClinVar RCV Id: RCV003716235
MyVariant Identifiers: chr17:g.46805709A>T (hg19) chr17:g.48728347A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.48728347A>T , CM000679.2:g.48728347A>T GRCh38
NC_000017.10:g.46805709A>T , CM000679.1:g.46805709A>T GRCh37
NC_000017.9:g.44160708A>T NCBI36
NG_033789.1:g.5403T>A , LRG_771:g.5403T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000290295.8:c.247T>A MANE Select ENSP00000290295.8:p.Phe83Ile
ENST00000290295.7:c.247T>A ENSP00000290295.7:p.Phe83Ile
NM_006361.5:c.247T>A , LRG_771t1:c.247T>A NP_006352.2:p.Phe83Ile
NM_006361.6:c.247T>A MANE Select NP_006352.2:p.Phe83Ile
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Search 100 bp 3'