Canonical Allele Identifier: CA400107851
Gene: HOXB13 HGNC NCBI

Linked Data

ClinVar Variation Id: 821313
ClinVar RCV Id: RCV001015608 RCV001058279
dbSNP Id: rs1597934682
gnomAD v4: 17-48728349-T-G
MyVariant Identifiers: chr17:g.46805711T>G (hg19) chr17:g.48728349T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.48728349T>G , CM000679.2:g.48728349T>G GRCh38
NC_000017.10:g.46805711T>G , CM000679.1:g.46805711T>G GRCh37
NC_000017.9:g.44160710T>G NCBI36
NG_033789.1:g.5401A>C , LRG_771:g.5401A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000290295.8:c.245A>C MANE Select ENSP00000290295.8:p.Tyr82Ser
ENST00000290295.7:c.245A>C ENSP00000290295.7:p.Tyr82Ser
NM_006361.5:c.245A>C , LRG_771t1:c.245A>C NP_006352.2:p.Tyr82Ser
NM_006361.6:c.245A>C MANE Select NP_006352.2:p.Tyr82Ser
Search 100 bp 5'
Search 100 bp 3'