Canonical Allele Identifier: CA288233

Gene: HOXB13

Linked Data

• ClinVar Variation Id: 128034
• ClinVar RCV Id: RCV000115972 ; RCV001022795 ; RCV001800404
• dbSNP Id: rs587780163
• gnomAD v3: 17-48728133-G-A
• gnomAD v4: 17-48728133-G-A
• MyVariant Identifiers: chr17:g.46805495G>A (hg19) ; chr17:g.48728133G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.48728133G>A , CM000679.2:g.48728133G>A	GRCh38
NC_000017.10:g.46805495G>A , CM000679.1:g.46805495G>A	GRCh37
NC_000017.9:g.44160494G>A	NCBI36
NG_033789.1:g.5617C>T , LRG_771:g.5617C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290295.8:c.461C>T MANE Select	ENSP00000290295.8:p.Ala154Val
ENST00000290295.7:c.461C>T	ENSP00000290295.7:p.Ala154Val
NM_006361.5:c.461C>T , LRG_771t1:c.461C>T	NP_006352.2:p.Ala154Val
NM_006361.6:c.461C>T MANE Select	NP_006352.2:p.Ala154Val