Canonical Allele Identifier: CA8633999

Gene: HOXB13

Linked Data

• ClinVar Variation Id: 483490
• ClinVar RCV Id: RCV000565924 ; RCV001069152 ; RCV003905489
• dbSNP Id: rs766909225
• ExAC: 17:46805595 G / C
• gnomAD v2: 17-46805595-G-C
• gnomAD v3: 17-48728233-G-C
• gnomAD v4: 17-48728233-G-C
• MyVariant Identifiers: chr17:g.46805595G>C (hg19) ; chr17:g.48728233G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.48728233G>C , CM000679.2:g.48728233G>C	GRCh38
NC_000017.10:g.46805595G>C , CM000679.1:g.46805595G>C	GRCh37
NC_000017.9:g.44160594G>C	NCBI36
NG_033789.1:g.5517C>G , LRG_771:g.5517C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290295.8:c.361C>G MANE Select	ENSP00000290295.8:p.Pro121Ala
ENST00000290295.7:c.361C>G	ENSP00000290295.7:p.Pro121Ala
NM_006361.5:c.361C>G , LRG_771t1:c.361C>G	NP_006352.2:p.Pro121Ala
NM_006361.6:c.361C>G MANE Select	NP_006352.2:p.Pro121Ala