Canonical Allele Identifier: CA349161419
Gene: BBS5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.170344332C>G (hg19) chr2:g.169487822C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.169487822C>G , CM000664.2:g.169487822C>G GRCh38
NC_000002.11:g.170344332C>G , CM000664.1:g.170344332C>G GRCh37
NC_000002.10:g.170052578C>G NCBI36
NG_011567.1:g.13327C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000295240.8:c.225C>G MANE Select ENSP00000295240.3:p.Cys75Trp
ENST00000295240.7:c.225C>G ENSP00000295240.3:p.Cys75Trp
ENST00000392663.6:c.225C>G ENSP00000376431.2:p.Cys75Trp
ENST00000443151.1:c.143-165C>G ENSP00000406182.1:n.143-165C>G
ENST00000475571.1:n.61C>G
ENST00000513963.1:c.225C>G ENSP00000424363.1:p.Cys75Trp
NM_152384.2:c.225C>G NP_689597.1:p.Cys75Trp
NM_152384.3:c.225C>G MANE Select NP_689597.1:p.Cys75Trp
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