Canonical Allele Identifier: CA400107858
Gene: HOXB13 HGNC NCBI

Linked Data

ClinVar Variation Id: 690662
ClinVar RCV Id: RCV000855965
dbSNP Id: rs1597934690
MyVariant Identifiers: chr17:g.46805715C>A (hg19) chr17:g.48728353C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.48728353C>A , CM000679.2:g.48728353C>A GRCh38
NC_000017.10:g.46805715C>A , CM000679.1:g.46805715C>A GRCh37
NC_000017.9:g.44160714C>A NCBI36
NG_033789.1:g.5397G>T , LRG_771:g.5397G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000290295.8:c.241G>T MANE Select ENSP00000290295.8:p.Gly81Cys
ENST00000290295.7:c.241G>T ENSP00000290295.7:p.Gly81Cys
NM_006361.5:c.241G>T , LRG_771t1:c.241G>T NP_006352.2:p.Gly81Cys
NM_006361.6:c.241G>T MANE Select NP_006352.2:p.Gly81Cys
Search 100 bp 5'
Search 100 bp 3'