Canonical Allele Identifier: CA2047353065
Gene: BBS10 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76345867A= , CM000674.2:g.76345867A= GRCh38
NC_000012.11:g.76739647A= , CM000674.1:g.76739647A= GRCh37
NC_000012.10:g.75263778A= NCBI36
NG_016357.1:g.7576T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.2118T= MANE Select ENSP00000497413.1:p.Thr706=
ENST00000393262.3:c.2118T= ENSP00000376946.3:p.Thr706=
NM_024685.3:c.2118T= NP_078961.3:p.Thr706=
NM_024685.4:c.2118T= MANE Select NP_078961.3:p.Thr706=