Canonical Allele Identifier: CA2047353601

Gene: BBS10

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.76347031T= , CM000674.2:g.76347031T=	GRCh38
NC_000012.11:g.76740811T= , CM000674.1:g.76740811T=	GRCh37
NC_000012.10:g.75264942T=	NCBI36
NG_016357.1:g.6412A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000650064.2:c.954A= MANE Select	ENSP00000497413.1:p.Leu318=
ENST00000393262.3:c.954A=	ENSP00000376946.3:p.Leu318=
NM_024685.3:c.954A=	NP_078961.3:p.Leu318=
NM_024685.4:c.954A= MANE Select	NP_078961.3:p.Leu318=