Canonical Allele Identifier: CA2047353257
Gene: BBS10 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76346316T= , CM000674.2:g.76346316T= GRCh38
NC_000012.11:g.76740096T= , CM000674.1:g.76740096T= GRCh37
NC_000012.10:g.75264227T= NCBI36
NG_016357.1:g.7127A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.1669A= MANE Select ENSP00000497413.1:p.Ile557=
ENST00000393262.3:c.1669A= ENSP00000376946.3:p.Ile557=
NM_024685.3:c.1669A= NP_078961.3:p.Ile557=
NM_024685.4:c.1669A= MANE Select NP_078961.3:p.Ile557=