Canonical Allele Identifier: CA8634007
Gene: HOXB13 HGNC NCBI

Linked Data

ClinVar Variation Id: 1730397
ClinVar RCV Id: RCV002326573 RCV003120899
dbSNP Id: rs757423683
ExAC: 17:46805623 C / T
gnomAD v2: 17-46805623-C-T
gnomAD v4: 17-48728261-C-T
MyVariant Identifiers: chr17:g.46805623C>T (hg19) chr17:g.48728261C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.48728261C>T , CM000679.2:g.48728261C>T GRCh38
NC_000017.10:g.46805623C>T , CM000679.1:g.46805623C>T GRCh37
NC_000017.9:g.44160622C>T NCBI36
NG_033789.1:g.5489G>A , LRG_771:g.5489G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000290295.8:c.333G>A MANE Select ENSP00000290295.8:p.Ala111=
ENST00000290295.7:c.333G>A ENSP00000290295.7:p.Ala111=
NM_006361.5:c.333G>A , LRG_771t1:c.333G>A NP_006352.2:p.Ala111=
NM_006361.6:c.333G>A MANE Select NP_006352.2:p.Ala111=
Search 100 bp 5'
Search 100 bp 3'