Canonical Allele Identifier: CA2047353261
Gene: BBS10 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76346333C= , CM000674.2:g.76346333C= GRCh38
NC_000012.11:g.76740113C= , CM000674.1:g.76740113C= GRCh37
NC_000012.10:g.75264244C= NCBI36
NG_016357.1:g.7110G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.1652G= MANE Select ENSP00000497413.1:p.Arg551=
ENST00000393262.3:c.1652G= ENSP00000376946.3:p.Arg551=
NM_024685.3:c.1652G= NP_078961.3:p.Arg551=
NM_024685.4:c.1652G= MANE Select NP_078961.3:p.Arg551=