Canonical Allele Identifier: CA349161517
Gene: BBS5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.169487833T>C , CM000664.2:g.169487833T>C GRCh38
NC_000002.11:g.170344343T>C , CM000664.1:g.170344343T>C GRCh37
NC_000002.10:g.170052589T>C NCBI36
NG_011567.1:g.13338T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000295240.8:c.236T>C MANE Select ENSP00000295240.3:p.Ile79Thr
ENST00000295240.7:c.236T>C ENSP00000295240.3:p.Ile79Thr
ENST00000392663.6:c.236T>C ENSP00000376431.2:p.Ile79Thr
ENST00000443151.1:c.143-154T>C ENSP00000406182.1:n.143-154T>C
ENST00000475571.1:n.72T>C
ENST00000513963.1:c.236T>C ENSP00000424363.1:p.Ile79Thr
NM_152384.2:c.236T>C NP_689597.1:p.Ile79Thr
NM_152384.3:c.236T>C MANE Select NP_689597.1:p.Ile79Thr