Canonical Allele Identifier: CA400107857
Gene: HOXB13 HGNC NCBI

Linked Data

ClinVar Variation Id: 821262
ClinVar RCV Id: RCV001015505 RCV001238550
dbSNP Id: rs1597934688
MyVariant Identifiers: chr17:g.46805714C>T (hg19) chr17:g.48728352C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.48728352C>T , CM000679.2:g.48728352C>T GRCh38
NC_000017.10:g.46805714C>T , CM000679.1:g.46805714C>T GRCh37
NC_000017.9:g.44160713C>T NCBI36
NG_033789.1:g.5398G>A , LRG_771:g.5398G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000290295.8:c.242G>A MANE Select ENSP00000290295.8:p.Gly81Asp
ENST00000290295.7:c.242G>A ENSP00000290295.7:p.Gly81Asp
NM_006361.5:c.242G>A , LRG_771t1:c.242G>A NP_006352.2:p.Gly81Asp
NM_006361.6:c.242G>A MANE Select NP_006352.2:p.Gly81Asp
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Search 100 bp 3'