Canonical Allele Identifier: CA2047353619
Gene: BBS10 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76347084G= , CM000674.2:g.76347084G= GRCh38
NC_000012.11:g.76740864G= , CM000674.1:g.76740864G= GRCh37
NC_000012.10:g.75264995G= NCBI36
NG_016357.1:g.6359C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.901C= MANE Select ENSP00000497413.1:p.Leu301=
ENST00000393262.3:c.901C= ENSP00000376946.3:p.Leu301=
NM_024685.3:c.901C= NP_078961.3:p.Leu301=
NM_024685.4:c.901C= MANE Select NP_078961.3:p.Leu301=