Canonical Allele Identifier: CA288239

Gene: HOXB13

Linked Data

• ClinVar Variation Id: 128036
• ClinVar RCV Id: RCV000115974 ; RCV000574650
• dbSNP Id: rs145059285
• ExAC: 17:46804373 C / T
• gnomAD v2: 17-46804373-C-T
• gnomAD v3: 17-48727011-C-T
• gnomAD v4: 17-48727011-C-T
• MyVariant Identifiers: chr17:g.46804373C>T (hg19) ; chr17:g.48727011C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.48727011C>T , CM000679.2:g.48727011C>T	GRCh38
NC_000017.10:g.46804373C>T , CM000679.1:g.46804373C>T	GRCh37
NC_000017.9:g.44159372C>T	NCBI36
NG_033789.1:g.6739G>A , LRG_771:g.6739G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290295.8:c.634G>A MANE Select	ENSP00000290295.8:p.Ala212Thr
ENST00000290295.7:c.634G>A	ENSP00000290295.7:p.Ala212Thr
NM_006361.5:c.634G>A , LRG_771t1:c.634G>A	NP_006352.2:p.Ala212Thr
NM_006361.6:c.634G>A MANE Select	NP_006352.2:p.Ala212Thr