Canonical Allele Identifier: CA8633975

Gene: HOXB13

Linked Data

• ClinVar Variation Id: 480871
• ClinVar RCV Id: RCV000565102 ; RCV001517664 ; RCV003316737 ; RCV001731790
• dbSNP Id: rs9900627
• ExAC: 17:46805443 A / G
• gnomAD v2: 17-46805443-A-G
• gnomAD v3: 17-48728081-A-G
• gnomAD v4: 17-48728081-A-G
• MyVariant Identifiers: chr17:g.46805443A>G (hg19) ; chr17:g.48728081A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.48728081A>G , CM000679.2:g.48728081A>G	GRCh38
NC_000017.10:g.46805443A>G , CM000679.1:g.46805443A>G	GRCh37
NC_000017.9:g.44160442A>G	NCBI36
NG_033789.1:g.5669T>C , LRG_771:g.5669T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290295.8:c.513T>C MANE Select	ENSP00000290295.8:p.Ser171=
ENST00000290295.7:c.513T>C	ENSP00000290295.7:p.Ser171=
NM_006361.5:c.513T>C , LRG_771t1:c.513T>C	NP_006352.2:p.Ser171=
NM_006361.6:c.513T>C MANE Select	NP_006352.2:p.Ser171=