Canonical Allele Identifier: CA6694277
Gene: BBS10 HGNC NCBI

Linked Data

ClinVar Variation Id: 1092633
ClinVar RCV Id: RCV001412499
dbSNP Id: rs751973161
ExAC: 12:76740925 T / C
gnomAD v2: 12-76740925-T-C
gnomAD v3: 12-76347145-T-C
gnomAD v4: 12-76347145-T-C
MyVariant Identifiers: chr12:g.76740925T>C (hg19) chr12:g.76347145T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76347145T>C , CM000674.2:g.76347145T>C GRCh38
NC_000012.11:g.76740925T>C , CM000674.1:g.76740925T>C GRCh37
NC_000012.10:g.75265056T>C NCBI36
NG_016357.1:g.6298A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000650064.2:c.840A>G MANE Select ENSP00000497413.1:p.Glu280=
ENST00000393262.3:c.840A>G ENSP00000376946.3:p.Glu280=
NM_024685.3:c.840A>G NP_078961.3:p.Glu280=
NM_024685.4:c.840A>G MANE Select NP_078961.3:p.Glu280=
Search 100 bp 5'
Search 100 bp 3'