Canonical Allele Identifier: CA400107852
Gene: HOXB13 HGNC NCBI

Linked Data

ClinVar Variation Id: 690504
ClinVar RCV Id: RCV001869292
dbSNP Id: rs1597934684
MyVariant Identifiers: chr17:g.46805712A>C (hg19) chr17:g.48728350A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.48728350A>C , CM000679.2:g.48728350A>C GRCh38
NC_000017.10:g.46805712A>C , CM000679.1:g.46805712A>C GRCh37
NC_000017.9:g.44160711A>C NCBI36
NG_033789.1:g.5400T>G , LRG_771:g.5400T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000290295.8:c.244T>G MANE Select ENSP00000290295.8:p.Tyr82Asp
ENST00000290295.7:c.244T>G ENSP00000290295.7:p.Tyr82Asp
NM_006361.5:c.244T>G , LRG_771t1:c.244T>G NP_006352.2:p.Tyr82Asp
NM_006361.6:c.244T>G MANE Select NP_006352.2:p.Tyr82Asp
Search 100 bp 5'
Search 100 bp 3'