Canonical Allele Identifier: CA429922271
Gene: BBS5 HGNC NCBI

Linked Data

gnomAD v4: 2-169487810-C-A
MyVariant Identifiers: chr2:g.170344320C>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.169487810C>A , CM000664.2:g.169487810C>A GRCh38
NC_000002.11:g.170344320C>A , CM000664.1:g.170344320C>A GRCh37
NC_000002.10:g.170052566C>A NCBI36
NG_011567.1:g.13315C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295240.8:c.213C>A MANE Select ENSP00000295240.3:p.Val71=
ENST00000295240.7:c.213C>A ENSP00000295240.3:p.Val71=
ENST00000392663.6:c.213C>A ENSP00000376431.2:p.Val71=
ENST00000443151.1:c.143-177C>A ENSP00000406182.1:n.143-177C>A
ENST00000475571.1:n.49C>A
ENST00000513963.1:c.213C>A ENSP00000424363.1:p.Val71=
NM_152384.2:c.213C>A NP_689597.1:p.Val71=
NM_152384.3:c.213C>A MANE Select NP_689597.1:p.Val71=
Search 100 bp 5'
Search 100 bp 3'