Canonical Allele Identifier: CA251748
Gene: BBS10 HGNC NCBI

Linked Data

ClinVar Variation Id: 1331
dbSNP Id: rs137852837

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