Canonical Allele Identifier: CA8634033

Gene: HOXB13

Linked Data

• ClinVar Variation Id: 483522
• ClinVar RCV Id: RCV000566887 ; RCV001230322
• dbSNP Id: rs529392210
• ExAC: 17:46805703 C / T
• gnomAD v2: 17-46805703-C-T
• gnomAD v3: 17-48728341-C-T
• gnomAD v4: 17-48728341-C-T
• MyVariant Identifiers: chr17:g.46805703C>T (hg19) ; chr17:g.48728341C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.48728341C>T , CM000679.2:g.48728341C>T	GRCh38
NC_000017.10:g.46805703C>T , CM000679.1:g.46805703C>T	GRCh37
NC_000017.9:g.44160702C>T	NCBI36
NG_033789.1:g.5409G>A , LRG_771:g.5409G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290295.8:c.253G>A MANE Select	ENSP00000290295.8:p.Gly85Ser
ENST00000290295.7:c.253G>A	ENSP00000290295.7:p.Gly85Ser
NM_006361.5:c.253G>A , LRG_771t1:c.253G>A	NP_006352.2:p.Gly85Ser
NM_006361.6:c.253G>A MANE Select	NP_006352.2:p.Gly85Ser