Canonical Allele Identifier: CA349161381

Gene: BBS5

Linked Data

• MyVariant Identifiers: chr2:g.170344327A>T (hg19) ; chr2:g.169487817A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169487817A>T , CM000664.2:g.169487817A>T	GRCh38
NC_000002.11:g.170344327A>T , CM000664.1:g.170344327A>T	GRCh37
NC_000002.10:g.170052573A>T	NCBI36
NG_011567.1:g.13322A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295240.8:c.220A>T MANE Select	ENSP00000295240.3:p.Asn74Tyr
ENST00000295240.7:c.220A>T	ENSP00000295240.3:p.Asn74Tyr
ENST00000392663.6:c.220A>T	ENSP00000376431.2:p.Asn74Tyr
ENST00000443151.1:c.143-170A>T	ENSP00000406182.1:n.143-170A>T
ENST00000475571.1:n.56A>T
ENST00000513963.1:c.220A>T	ENSP00000424363.1:p.Asn74Tyr
NM_152384.2:c.220A>T	NP_689597.1:p.Asn74Tyr
NM_152384.3:c.220A>T MANE Select	NP_689597.1:p.Asn74Tyr