Canonical Allele Identifier: CA400107854
Gene: HOXB13 HGNC NCBI

Linked Data

ClinVar Variation Id: 690664
ClinVar RCV Id: RCV000855967
dbSNP Id: rs1597934684
MyVariant Identifiers: chr17:g.46805712A>T (hg19) chr17:g.48728350A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.48728350A>T , CM000679.2:g.48728350A>T GRCh38
NC_000017.10:g.46805712A>T , CM000679.1:g.46805712A>T GRCh37
NC_000017.9:g.44160711A>T NCBI36
NG_033789.1:g.5400T>A , LRG_771:g.5400T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000290295.8:c.244T>A MANE Select ENSP00000290295.8:p.Tyr82Asn
ENST00000290295.7:c.244T>A ENSP00000290295.7:p.Tyr82Asn
NM_006361.5:c.244T>A , LRG_771t1:c.244T>A NP_006352.2:p.Tyr82Asn
NM_006361.6:c.244T>A MANE Select NP_006352.2:p.Tyr82Asn
Search 100 bp 5'
Search 100 bp 3'