Canonical Allele Identifier: CA2047353050
Gene: BBS10 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76345841T= , CM000674.2:g.76345841T= GRCh38
NC_000012.11:g.76739621T= , CM000674.1:g.76739621T= GRCh37
NC_000012.10:g.75263752T= NCBI36
NG_016357.1:g.7602A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.2144A= MANE Select ENSP00000497413.1:p.His715=
ENST00000393262.3:c.2144A= ENSP00000376946.3:p.His715=
NM_024685.3:c.2144A= NP_078961.3:p.His715=
NM_024685.4:c.2144A= MANE Select NP_078961.3:p.His715=