Canonical Allele Identifier: CA59933097
Gene: BBS5 HGNC NCBI

Linked Data

dbSNP Id: rs866793029
gnomAD v4: 2-169493687-A-G
MyVariant Identifiers: chr2:g.170350197A>G (hg19) chr2:g.169493687A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.169493687A>G , CM000664.2:g.169493687A>G GRCh38
NC_000002.11:g.170350197A>G , CM000664.1:g.170350197A>G GRCh37
NC_000002.10:g.170058443A>G NCBI36
NG_011567.1:g.19192A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000295240.8:c.523-54A>G MANE Select ENSP00000295240.3:n.523-54A>G
ENST00000295240.7:c.523-54A>G ENSP00000295240.3:n.523-54A>G
ENST00000392663.6:c.523-54A>G ENSP00000376431.2:n.523-54A>G
ENST00000443151.1:c.*245-54A>G ENSP00000406182.1:n.*245-54A>G
ENST00000513963.1:c.523-54A>G ENSP00000424363.1:n.523-54A>G
NM_152384.2:c.523-54A>G NP_689597.1:n.523-54A>G
NM_152384.3:c.523-54A>G MANE Select NP_689597.1:n.523-54A>G
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