Canonical Allele Identifier: CA2047353253
Gene: BBS10 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76346307C= , CM000674.2:g.76346307C= GRCh38
NC_000012.11:g.76740087C= , CM000674.1:g.76740087C= GRCh37
NC_000012.10:g.75264218C= NCBI36
NG_016357.1:g.7136G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.1678G= MANE Select ENSP00000497413.1:p.Glu560=
ENST00000393262.3:c.1678G= ENSP00000376946.3:p.Glu560=
NM_024685.3:c.1678G= NP_078961.3:p.Glu560=
NM_024685.4:c.1678G= MANE Select NP_078961.3:p.Glu560=