Canonical Allele Identifier: CA2047353640
Gene: BBS10 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76347146T= , CM000674.2:g.76347146T= GRCh38
NC_000012.11:g.76740926T= , CM000674.1:g.76740926T= GRCh37
NC_000012.10:g.75265057T= NCBI36
NG_016357.1:g.6297A=

Transcript Alleles

HGVS Amino-acid change
ENST00000650064.2:c.839A= MANE Select ENSP00000497413.1:p.Glu280=
ENST00000393262.3:c.839A= ENSP00000376946.3:p.Glu280=
NM_024685.3:c.839A= NP_078961.3:p.Glu280=
NM_024685.4:c.839A= MANE Select NP_078961.3:p.Glu280=