Canonical Allele Identifier: CA6694269
Gene: BBS10 HGNC NCBI

Linked Data

ClinVar Variation Id: 658119
dbSNP Id: rs150587582

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76347099C>T , CM000674.2:g.76347099C>T GRCh38
NC_000012.11:g.76740879C>T , CM000674.1:g.76740879C>T GRCh37
NC_000012.10:g.75265010C>T NCBI36
NG_016357.1:g.6344G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.886G>A MANE Select ENSP00000497413.1:p.Ala296Thr
ENST00000393262.3:c.886G>A ENSP00000376946.3:p.Ala296Thr
NM_024685.3:c.886G>A NP_078961.3:p.Ala296Thr
NM_024685.4:c.886G>A MANE Select NP_078961.3:p.Ala296Thr