Canonical Allele Identifier: CA400107672
Gene: HOXB13 HGNC NCBI

Linked Data

dbSNP Id: rs1597934464
MyVariant Identifiers: chr17:g.46805620C>G (hg19) chr17:g.48728258C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.48728258C>G , CM000679.2:g.48728258C>G GRCh38
NC_000017.10:g.46805620C>G , CM000679.1:g.46805620C>G GRCh37
NC_000017.9:g.44160619C>G NCBI36
NG_033789.1:g.5492G>C , LRG_771:g.5492G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000290295.8:c.336G>C MANE Select ENSP00000290295.8:p.Glu112Asp
ENST00000290295.7:c.336G>C ENSP00000290295.7:p.Glu112Asp
NM_006361.5:c.336G>C , LRG_771t1:c.336G>C NP_006352.2:p.Glu112Asp
NM_006361.6:c.336G>C MANE Select NP_006352.2:p.Glu112Asp
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