Canonical Allele Identifier: CA1306468592
Gene: BBS5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.169487717A= , CM000664.2:g.169487717A= GRCh38
NC_000002.11:g.170344227A= , CM000664.1:g.170344227A= GRCh37
NC_000002.10:g.170052473A= NCBI36
NG_011567.1:g.13222A=

Transcript Alleles

HGVS Amino-acid change
ENST00000295240.8:c.209-89A= MANE Select ENSP00000295240.3:n.209-89A=
ENST00000295240.7:c.209-89A= ENSP00000295240.3:n.209-89A=
ENST00000392663.6:c.209-89A= ENSP00000376431.2:n.209-89A=
ENST00000443151.1:c.143-270A= ENSP00000406182.1:n.143-270A=
ENST00000513963.1:c.209-89A= ENSP00000424363.1:n.209-89A=
NM_152384.2:c.209-89A= NP_689597.1:n.209-89A=
NM_152384.3:c.209-89A= MANE Select NP_689597.1:n.209-89A=