Canonical Allele Identifier: CA8634000

Gene: HOXB13

Linked Data

• ClinVar Variation Id: 514907
• ClinVar RCV Id: RCV001020714 ; RCV001441872
• dbSNP Id: rs777265653
• ExAC: 17:46805596 G / A
• gnomAD v2: 17-46805596-G-A
• gnomAD v3: 17-48728234-G-A
• gnomAD v4: 17-48728234-G-A
• MyVariant Identifiers: chr17:g.46805596G>A (hg19) ; chr17:g.48728234G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.48728234G>A , CM000679.2:g.48728234G>A	GRCh38
NC_000017.10:g.46805596G>A , CM000679.1:g.46805596G>A	GRCh37
NC_000017.9:g.44160595G>A	NCBI36
NG_033789.1:g.5516C>T , LRG_771:g.5516C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290295.8:c.360C>T MANE Select	ENSP00000290295.8:p.Tyr120=
ENST00000290295.7:c.360C>T	ENSP00000290295.7:p.Tyr120=
NM_006361.5:c.360C>T , LRG_771t1:c.360C>T	NP_006352.2:p.Tyr120=
NM_006361.6:c.360C>T MANE Select	NP_006352.2:p.Tyr120=