Canonical Allele Identifier: CA429922304
Gene: BBS5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2751508
ClinVar RCV Id: RCV003524424
MyVariant Identifiers: chr2:g.170344344T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.169487834T>C , CM000664.2:g.169487834T>C GRCh38
NC_000002.11:g.170344344T>C , CM000664.1:g.170344344T>C GRCh37
NC_000002.10:g.170052590T>C NCBI36
NG_011567.1:g.13339T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000295240.8:c.237T>C MANE Select ENSP00000295240.3:p.Ile79=
ENST00000295240.7:c.237T>C ENSP00000295240.3:p.Ile79=
ENST00000392663.6:c.237T>C ENSP00000376431.2:p.Ile79=
ENST00000443151.1:c.143-153T>C ENSP00000406182.1:n.143-153T>C
ENST00000475571.1:n.73T>C
ENST00000513963.1:c.237T>C ENSP00000424363.1:p.Ile79=
NM_152384.2:c.237T>C NP_689597.1:p.Ile79=
NM_152384.3:c.237T>C MANE Select NP_689597.1:p.Ile79=
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