Canonical Allele Identifier: CA500661998
Gene: HOXB13 HGNC NCBI

Linked Data

ClinVar Variation Id: 1093951
ClinVar RCV Id: RCV001414265
dbSNP Id: rs2143073536
MyVariant Identifiers: chr17:g.46805719A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.48728357A>G , CM000679.2:g.48728357A>G GRCh38
NC_000017.10:g.46805719A>G , CM000679.1:g.46805719A>G GRCh37
NC_000017.9:g.44160718A>G NCBI36
NG_033789.1:g.5393T>C , LRG_771:g.5393T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000290295.8:c.237T>C MANE Select ENSP00000290295.8:p.Pro79=
ENST00000290295.7:c.237T>C ENSP00000290295.7:p.Pro79=
NM_006361.5:c.237T>C , LRG_771t1:c.237T>C NP_006352.2:p.Pro79=
NM_006361.6:c.237T>C MANE Select NP_006352.2:p.Pro79=
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