Canonical Allele Identifier: CA2047353913
Gene: BBS10 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76347727A= , CM000674.2:g.76347727A= GRCh38
NC_000012.11:g.76741507A= , CM000674.1:g.76741507A= GRCh37
NC_000012.10:g.75265638A= NCBI36
NG_016357.1:g.5716T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.258T= MANE Select ENSP00000497413.1:p.Phe86=
ENST00000393262.3:c.258T= ENSP00000376946.3:p.Phe86=
NM_024685.3:c.258T= NP_078961.3:p.Phe86=
NM_024685.4:c.258T= MANE Select NP_078961.3:p.Phe86=