Canonical Allele Identifier: CA1306468627

Gene: BBS5

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169487810C= , CM000664.2:g.169487810C=	GRCh38
NC_000002.11:g.170344320C= , CM000664.1:g.170344320C=	GRCh37
NC_000002.10:g.170052566C=	NCBI36
NG_011567.1:g.13315C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295240.8:c.213C= MANE Select	ENSP00000295240.3:p.Val71=
ENST00000295240.7:c.213C=	ENSP00000295240.3:p.Val71=
ENST00000392663.6:c.213C=	ENSP00000376431.2:p.Val71=
ENST00000443151.1:c.143-177C=	ENSP00000406182.1:n.143-177C=
ENST00000475571.1:n.49C=
ENST00000513963.1:c.213C=	ENSP00000424363.1:p.Val71=
NM_152384.2:c.213C=	NP_689597.1:p.Val71=
NM_152384.3:c.213C= MANE Select	NP_689597.1:p.Val71=