Canonical Allele Identifier: CA400107678
Gene: HOXB13 HGNC NCBI

Linked Data

ClinVar Variation Id: 690712
ClinVar RCV Id: RCV000856015
dbSNP Id: rs1597934467
MyVariant Identifiers: chr17:g.46805622C>T (hg19) chr17:g.48728260C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.48728260C>T , CM000679.2:g.48728260C>T GRCh38
NC_000017.10:g.46805622C>T , CM000679.1:g.46805622C>T GRCh37
NC_000017.9:g.44160621C>T NCBI36
NG_033789.1:g.5490G>A , LRG_771:g.5490G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000290295.8:c.334G>A MANE Select ENSP00000290295.8:p.Glu112Lys
ENST00000290295.7:c.334G>A ENSP00000290295.7:p.Glu112Lys
NM_006361.5:c.334G>A , LRG_771t1:c.334G>A NP_006352.2:p.Glu112Lys
NM_006361.6:c.334G>A MANE Select NP_006352.2:p.Glu112Lys
Search 100 bp 5'
Search 100 bp 3'