Canonical Allele Identifier: CA400107674
Gene: HOXB13 HGNC NCBI

Linked Data

gnomAD v4: 17-48728259-T-C
MyVariant Identifiers: chr17:g.46805621T>C (hg19) chr17:g.48728259T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.48728259T>C , CM000679.2:g.48728259T>C GRCh38
NC_000017.10:g.46805621T>C , CM000679.1:g.46805621T>C GRCh37
NC_000017.9:g.44160620T>C NCBI36
NG_033789.1:g.5491A>G , LRG_771:g.5491A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000290295.8:c.335A>G MANE Select ENSP00000290295.8:p.Glu112Gly
ENST00000290295.7:c.335A>G ENSP00000290295.7:p.Glu112Gly
NM_006361.5:c.335A>G , LRG_771t1:c.335A>G NP_006352.2:p.Glu112Gly
NM_006361.6:c.335A>G MANE Select NP_006352.2:p.Glu112Gly
Search 100 bp 5'
Search 100 bp 3'