Canonical Allele Identifier: CA647846192
Gene: BBS5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.169487713G>T , CM000664.2:g.169487713G>T GRCh38
NC_000002.11:g.170344223G>T , CM000664.1:g.170344223G>T GRCh37
NC_000002.10:g.170052469G>T NCBI36
NG_011567.1:g.13218G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000295240.8:c.209-93G>T MANE Select ENSP00000295240.3:n.209-93G>T
ENST00000295240.7:c.209-93G>T ENSP00000295240.3:n.209-93G>T
ENST00000392663.6:c.209-93G>T ENSP00000376431.2:n.209-93G>T
ENST00000443151.1:c.143-274G>T ENSP00000406182.1:n.143-274G>T
ENST00000513963.1:c.209-93G>T ENSP00000424363.1:n.209-93G>T
NM_152384.2:c.209-93G>T NP_689597.1:n.209-93G>T
NM_152384.3:c.209-93G>T MANE Select NP_689597.1:n.209-93G>T