Canonical Allele Identifier: CA224184
Community Standard Title: NM_152384.3(BBS5):c.584A>G (p.Asp195Gly)
Gene: BBS5 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.169493802A>G , CM000664.2:g.169493802A>G GRCh38
NC_000002.11:g.170350312A>G , CM000664.1:g.170350312A>G GRCh37
NC_000002.10:g.170058558A>G NCBI36
NG_011567.1:g.19307A>G

Transcript Alleles

HGVS Amino-acid Change
NM_152384.3:c.584A>G MANE Select NP_689597.1:p.Asp195Gly
ENST00000295240.8:c.584A>G MANE Select ENSP00000295240.3:p.Asp195Gly
NM_152384.2:c.584A>G NP_689597.1:p.Asp195Gly
ENST00000295240.7:c.584A>G ENSP00000295240.3:p.Asp195Gly
ENST00000392663.6:c.584A>G ENSP00000376431.2:p.Asp195Gly
ENST00000443151.1:c.*306A>G ENSP00000406182.1:n.*306A>G
ENST00000513963.1:c.584A>G ENSP00000424363.1:p.Asp195Gly
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