Canonical Allele Identifier: CA349161647

Gene: BBS5

Linked Data

• dbSNP Id: rs1230457752
• gnomAD v2: 2-170344362-C-A
• gnomAD v4: 2-169487852-C-A
• MyVariant Identifiers: chr2:g.170344362C>A (hg19) ; chr2:g.169487852C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169487852C>A , CM000664.2:g.169487852C>A	GRCh38
NC_000002.11:g.170344362C>A , CM000664.1:g.170344362C>A	GRCh37
NC_000002.10:g.170052608C>A	NCBI36
NG_011567.1:g.13357C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295240.8:c.255C>A MANE Select	ENSP00000295240.3:p.Asn85Lys
ENST00000295240.7:c.255C>A	ENSP00000295240.3:p.Asn85Lys
ENST00000392663.6:c.255C>A	ENSP00000376431.2:p.Asn85Lys
ENST00000443151.1:c.143-135C>A	ENSP00000406182.1:n.143-135C>A
ENST00000475571.1:n.91C>A
ENST00000513963.1:c.255C>A	ENSP00000424363.1:p.Asn85Lys
NM_152384.2:c.255C>A	NP_689597.1:p.Asn85Lys
NM_152384.3:c.255C>A MANE Select	NP_689597.1:p.Asn85Lys