Canonical Allele Identifier: CA251748

Gene: BBS10

Linked Data

• ClinVar Variation Id: 1331
• ClinVar RCV Id: RCV000001394 ; RCV001093324 ; RCV001328242
• dbSNP Id: rs137852837
• gnomAD v4: 12-76347054-A-C
• MyVariant Identifiers: chr12:g.76740834A>C (hg19) ; chr12:g.76347054A>C (hg38)
• PubMed: PMID:16582908 ; PMID:16823392

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.76347054A>C , CM000674.2:g.76347054A>C	GRCh38
NC_000012.11:g.76740834A>C , CM000674.1:g.76740834A>C	GRCh37
NC_000012.10:g.75264965A>C	NCBI36
NG_016357.1:g.6389T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650064.2:c.931T>G MANE Select	ENSP00000497413.1:p.Ser311Ala
ENST00000393262.3:c.931T>G	ENSP00000376946.3:p.Ser311Ala
NM_024685.3:c.931T>G	NP_078961.3:p.Ser311Ala
NM_024685.4:c.931T>G MANE Select	NP_078961.3:p.Ser311Ala