Canonical Allele Identifier: CA349164656
Gene: BBS5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2028830
ClinVar RCV Id: RCV002863624
MyVariant Identifiers: chr2:g.170349410G>C (hg19) chr2:g.169492900G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.169492900G>C , CM000664.2:g.169492900G>C GRCh38
NC_000002.11:g.170349410G>C , CM000664.1:g.170349410G>C GRCh37
NC_000002.10:g.170057656G>C NCBI36
NG_011567.1:g.18405G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000295240.8:c.413G>C MANE Select ENSP00000295240.3:p.Arg138Pro
ENST00000295240.7:c.413G>C ENSP00000295240.3:p.Arg138Pro
ENST00000392663.6:c.413G>C ENSP00000376431.2:p.Arg138Pro
ENST00000443151.1:c.*135G>C ENSP00000406182.1:n.*135G>C
ENST00000475571.1:n.380G>C
ENST00000513963.1:c.413G>C ENSP00000424363.1:p.Arg138Pro
NM_152384.2:c.413G>C NP_689597.1:p.Arg138Pro
NM_152384.3:c.413G>C MANE Select NP_689597.1:p.Arg138Pro
Search 100 bp 5'
Search 100 bp 3'