Canonical Allele Identifier: CA8633998

Gene: HOXB13

Linked Data

• ClinVar Variation Id: 480873
• ClinVar RCV Id: RCV000562314 ; RCV003316739 ; RCV001515128 ; RCV001553742
• dbSNP Id: rs8556
• ExAC: 17:46805590 G / A
• gnomAD v2: 17-46805590-G-A
• gnomAD v3: 17-48728228-G-A
• gnomAD v4: 17-48728228-G-A
• MyVariant Identifiers: chr17:g.46805590G>A (hg19) ; chr17:g.48728228G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.48728228G>A , CM000679.2:g.48728228G>A	GRCh38
NC_000017.10:g.46805590G>A , CM000679.1:g.46805590G>A	GRCh37
NC_000017.9:g.44160589G>A	NCBI36
NG_033789.1:g.5522C>T , LRG_771:g.5522C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290295.8:c.366C>T MANE Select	ENSP00000290295.8:p.Ser122=
ENST00000290295.7:c.366C>T	ENSP00000290295.7:p.Ser122=
NM_006361.5:c.366C>T , LRG_771t1:c.366C>T	NP_006352.2:p.Ser122=
NM_006361.6:c.366C>T MANE Select	NP_006352.2:p.Ser122=