Canonical Allele Identifier: CA253784
Gene: BBS5 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 6161
ClinVar RCV Id: RCV000006536
dbSNP Id: rs121908581

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.169487811G>A , CM000664.2:g.169487811G>A GRCh38
NC_000002.10:g.170052567G>A NCBI36
NC_000002.11:g.170344321G>A , CM000664.1:g.170344321G>A GRCh37
NG_011567.1:g.13316G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000295240.7:c.214G>A ENSP00000295240.3:p.Gly72Ser
ENST00000392663.6:c.214G>A ENSP00000376431.2:p.Gly72Ser
ENST00000443151.1:c.143-176G>A ENSP00000406182.1:p.=
ENST00000475571.1:n.50G>A
ENST00000513963.1:c.214G>A ENSP00000424363.1:p.Gly72Ser
NM_152384.2:c.214G>A VV NP_689597.1:p.Gly72Ser