Canonical Allele Identifier: CA938986868
Gene: BBS1 HGNC NCBI

Linked Data

dbSNP Id: rs1855917352
gnomAD v3: 11-66510635-G-C
gnomAD v4: 11-66510635-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66510635G>C , CM000673.2:g.66510635G>C GRCh38
NC_000011.9:g.66278106G>C , CM000673.1:g.66278106G>C GRCh37
NC_000011.8:g.66034682G>C NCBI36
NG_009093.1:g.4988G>C
NG_032068.1:g.35227G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000318312.12:c.-25G>C MANE Select ENSP00000317469.7:n.-25G>C
ENST00000318312.11:c.-25G>C ENSP00000317469.7:n.-25G>C
ENST00000419755.3:c.159-378G>C ENSP00000398526.3:n.159-378G>C
ENST00000526760.5:c.-25G>C ENSP00000432140.1:n.-25G>C
ENST00000526815.5:c.-421G>C ENSP00000436860.1:n.-421G>C
ENST00000527251.5:c.-421G>C ENSP00000434360.1:n.-421G>C
ENST00000533557.5:c.-25G>C ENSP00000434619.1:n.-25G>C
ENST00000533644.5:c.-25G>C ENSP00000436073.1:n.-25G>C
NM_024649.5:c.-25G>C MANE Select NP_078925.3:n.-25G>C
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