Canonical Allele Identifier: CA8633983

Gene: HOXB13

Linked Data

• ClinVar Variation Id: 483479
• ClinVar RCV Id: RCV000562228 ; RCV000827879 ; RCV001821675 ; RCV003945350
• dbSNP Id: rs35033273
• ExAC: 17:46805482 C / T
• gnomAD v2: 17-46805482-C-T
• gnomAD v3: 17-48728120-C-T
• gnomAD v4: 17-48728120-C-T
• MyVariant Identifiers: chr17:g.46805482C>T (hg19) ; chr17:g.48728120C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.48728120C>T , CM000679.2:g.48728120C>T	GRCh38
NC_000017.10:g.46805482C>T , CM000679.1:g.46805482C>T	GRCh37
NC_000017.9:g.44160481C>T	NCBI36
NG_033789.1:g.5630G>A , LRG_771:g.5630G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290295.8:c.474G>A MANE Select	ENSP00000290295.8:p.Pro158=
ENST00000290295.7:c.474G>A	ENSP00000290295.7:p.Pro158=
NM_006361.5:c.474G>A , LRG_771t1:c.474G>A	NP_006352.2:p.Pro158=
NM_006361.6:c.474G>A MANE Select	NP_006352.2:p.Pro158=