Canonical Allele Identifier: CA400107663
Gene: HOXB13 HGNC NCBI

Linked Data

ClinVar Variation Id: 968534
ClinVar RCV Id: RCV001243689
dbSNP Id: rs751698154
gnomAD v3: 17-48728254-G-A
gnomAD v4: 17-48728254-G-A
MyVariant Identifiers: chr17:g.46805616G>A (hg19) chr17:g.48728254G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.48728254G>A , CM000679.2:g.48728254G>A GRCh38
NC_000017.10:g.46805616G>A , CM000679.1:g.46805616G>A GRCh37
NC_000017.9:g.44160615G>A NCBI36
NG_033789.1:g.5496C>T , LRG_771:g.5496C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000290295.8:c.340C>T MANE Select ENSP00000290295.8:p.Pro114Ser
ENST00000290295.7:c.340C>T ENSP00000290295.7:p.Pro114Ser
NM_006361.5:c.340C>T , LRG_771t1:c.340C>T NP_006352.2:p.Pro114Ser
NM_006361.6:c.340C>T MANE Select NP_006352.2:p.Pro114Ser
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Search 100 bp 3'