Canonical Allele Identifier: CA259914
Gene: BBS10 HGNC NCBI

Linked Data

ClinVar Variation Id: 30818
ClinVar RCV Id: RCV000023803 RCV000225785 RCV000732709
dbSNP Id: rs148374859
ExAC: 12:76741492 G / C
gnomAD v2: 12-76741492-G-C
gnomAD v3: 12-76347712-G-C
gnomAD v4: 12-76347712-G-C
MyVariant Identifiers: chr12:g.76741492G>C (hg19) chr12:g.76347712G>C (hg38)
PubMed: PMID:20805367
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76347712G>C , CM000674.2:g.76347712G>C GRCh38
NC_000012.11:g.76741492G>C , CM000674.1:g.76741492G>C GRCh37
NC_000012.10:g.75265623G>C NCBI36
NG_016357.1:g.5731C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000650064.2:c.273C>G MANE Select ENSP00000497413.1:p.Cys91Trp
ENST00000393262.3:c.273C>G ENSP00000376946.3:p.Cys91Trp
NM_024685.3:c.273C>G NP_078961.3:p.Cys91Trp
NM_024685.4:c.273C>G MANE Select NP_078961.3:p.Cys91Trp
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