Canonical Allele Identifier: CA2661828167
Gene: BBS5 HGNC NCBI

Linked Data

gnomAD v4: 2-169492832-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.169492832C>G , CM000664.2:g.169492832C>G GRCh38
NC_000002.11:g.170349342C>G , CM000664.1:g.170349342C>G GRCh37
NC_000002.10:g.170057588C>G NCBI36
NG_011567.1:g.18337C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000295240.8:c.387-42C>G MANE Select ENSP00000295240.3:n.387-42C>G
ENST00000295240.7:c.387-42C>G ENSP00000295240.3:n.387-42C>G
ENST00000392663.6:c.387-42C>G ENSP00000376431.2:n.387-42C>G
ENST00000443151.1:c.*109-42C>G ENSP00000406182.1:n.*109-42C>G
ENST00000475571.1:n.354-42C>G
ENST00000513963.1:c.387-42C>G ENSP00000424363.1:n.387-42C>G
NM_152384.2:c.387-42C>G NP_689597.1:n.387-42C>G
NM_152384.3:c.387-42C>G MANE Select NP_689597.1:n.387-42C>G
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