Canonical Allele Identifier: CA2047353622
Gene: BBS10 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76347096T= , CM000674.2:g.76347096T= GRCh38
NC_000012.11:g.76740876T= , CM000674.1:g.76740876T= GRCh37
NC_000012.10:g.75265007T= NCBI36
NG_016357.1:g.6347A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.889A= MANE Select ENSP00000497413.1:p.Ile297=
ENST00000393262.3:c.889A= ENSP00000376946.3:p.Ile297=
NM_024685.3:c.889A= NP_078961.3:p.Ile297=
NM_024685.4:c.889A= MANE Select NP_078961.3:p.Ile297=