Canonical Allele Identifier: CA2562194035

Gene: BBS5

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169492833A>G , CM000664.2:g.169492833A>G	GRCh38
NC_000002.11:g.170349343A>G , CM000664.1:g.170349343A>G	GRCh37
NC_000002.10:g.170057589A>G	NCBI36
NG_011567.1:g.18338A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000295240.8:c.387-41A>G MANE Select	ENSP00000295240.3:n.387-41A>G
ENST00000295240.7:c.387-41A>G	ENSP00000295240.3:n.387-41A>G
ENST00000392663.6:c.387-41A>G	ENSP00000376431.2:n.387-41A>G
ENST00000443151.1:c.*109-41A>G	ENSP00000406182.1:n.*109-41A>G
ENST00000475571.1:n.354-41A>G
ENST00000513963.1:c.387-41A>G	ENSP00000424363.1:n.387-41A>G
NM_152384.2:c.387-41A>G	NP_689597.1:n.387-41A>G
NM_152384.3:c.387-41A>G MANE Select	NP_689597.1:n.387-41A>G