Canonical Allele Identifier: CA8634029

Gene: HOXB13

Linked Data

• ClinVar Variation Id: 483499
• ClinVar RCV Id: RCV000561971 ; RCV001858292
• dbSNP Id: rs780012601
• ExAC: 17:46805679 A / C
• gnomAD v2: 17-46805679-A-C
• gnomAD v3: 17-48728317-A-C
• gnomAD v4: 17-48728317-A-C
• MyVariant Identifiers: chr17:g.46805679A>C (hg19) ; chr17:g.48728317A>C (hg38)
• PubMed: PMID:28272408

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.48728317A>C , CM000679.2:g.48728317A>C	GRCh38
NC_000017.10:g.46805679A>C , CM000679.1:g.46805679A>C	GRCh37
NC_000017.9:g.44160678A>C	NCBI36
NG_033789.1:g.5433T>G , LRG_771:g.5433T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290295.8:c.277T>G MANE Select	ENSP00000290295.8:p.Ser93Ala
ENST00000290295.7:c.277T>G	ENSP00000290295.7:p.Ser93Ala
NM_006361.5:c.277T>G , LRG_771t1:c.277T>G	NP_006352.2:p.Ser93Ala
NM_006361.6:c.277T>G MANE Select	NP_006352.2:p.Ser93Ala