Canonical Allele Identifier: CA265990
Gene: BBS10 HGNC NCBI

Linked Data

ClinVar Variation Id: 68063
dbSNP Id: rs199474722

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76346783C>T , CM000674.2:g.76346783C>T GRCh38
NC_000012.11:g.76740563C>T , CM000674.1:g.76740563C>T GRCh37
NC_000012.10:g.75264694C>T NCBI36
NG_016357.1:g.6660G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.1202G>A MANE Select ENSP00000497413.1:p.Gly401Glu
ENST00000393262.3:c.1202G>A ENSP00000376946.3:p.Gly401Glu
NM_024685.3:c.1202G>A NP_078961.3:p.Gly401Glu
NM_024685.4:c.1202G>A MANE Select NP_078961.3:p.Gly401Glu