Canonical Allele Identifier: CA385810610
Gene: BBS10 HGNC NCBI

Linked Data

ClinVar Variation Id: 2168827
ClinVar RCV Id: RCV003082767
dbSNP Id: rs1951757516

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76346321A>G , CM000674.2:g.76346321A>G GRCh38
NC_000012.11:g.76740101A>G , CM000674.1:g.76740101A>G GRCh37
NC_000012.10:g.75264232A>G NCBI36
NG_016357.1:g.7122T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.1664T>C MANE Select ENSP00000497413.1:p.Ile555Thr
ENST00000393262.3:c.1664T>C ENSP00000376946.3:p.Ile555Thr
NM_024685.3:c.1664T>C NP_078961.3:p.Ile555Thr
NM_024685.4:c.1664T>C MANE Select NP_078961.3:p.Ile555Thr