Canonical Allele Identifier: CA1306470995

Gene: BBS5

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169492901T= , CM000664.2:g.169492901T=	GRCh38
NC_000002.11:g.170349411T= , CM000664.1:g.170349411T=	GRCh37
NC_000002.10:g.170057657T=	NCBI36
NG_011567.1:g.18406T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000295240.8:c.414T= MANE Select	ENSP00000295240.3:p.Arg138=
ENST00000295240.7:c.414T=	ENSP00000295240.3:p.Arg138=
ENST00000392663.6:c.414T=	ENSP00000376431.2:p.Arg138=
ENST00000443151.1:c.*136T=	ENSP00000406182.1:n.*136T=
ENST00000475571.1:n.381T=
ENST00000513963.1:c.414T=	ENSP00000424363.1:p.Arg138=
NM_152384.2:c.414T=	NP_689597.1:p.Arg138=
NM_152384.3:c.414T= MANE Select	NP_689597.1:p.Arg138=