Canonical Allele Identifier: CA2753108812

Gene: BBS5

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169487669A>C , CM000664.2:g.169487669A>C	GRCh38
NC_000002.11:g.170344179A>C , CM000664.1:g.170344179A>C	GRCh37
NC_000002.10:g.170052425A>C	NCBI36
NG_011567.1:g.13174A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000295240.8:c.209-137A>C MANE Select	ENSP00000295240.3:n.209-137A>C
ENST00000295240.7:c.209-137A>C	ENSP00000295240.3:n.209-137A>C
ENST00000392663.6:c.209-137A>C	ENSP00000376431.2:n.209-137A>C
ENST00000443151.1:c.143-318A>C	ENSP00000406182.1:n.143-318A>C
ENST00000513963.1:c.209-137A>C	ENSP00000424363.1:n.209-137A>C
NM_152384.2:c.209-137A>C	NP_689597.1:n.209-137A>C
NM_152384.3:c.209-137A>C MANE Select	NP_689597.1:n.209-137A>C