Canonical Allele Identifier: CA6694129
Gene: BBS10 HGNC NCBI

Linked Data

ClinVar Variation Id: 261755
ClinVar RCV Id: RCV000243352 RCV000638386 RCV001274501 RCV001699273
dbSNP Id: rs139719799
ExAC: 12:76740096 T / C
gnomAD v2: 12-76740096-T-C
gnomAD v3: 12-76346316-T-C
gnomAD v4: 12-76346316-T-C
MyVariant Identifiers: chr12:g.76740096T>C (hg19) chr12:g.76346316T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76346316T>C , CM000674.2:g.76346316T>C GRCh38
NC_000012.11:g.76740096T>C , CM000674.1:g.76740096T>C GRCh37
NC_000012.10:g.75264227T>C NCBI36
NG_016357.1:g.7127A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.1669A>G MANE Select ENSP00000497413.1:p.Ile557Val
ENST00000393262.3:c.1669A>G ENSP00000376946.3:p.Ile557Val
NM_024685.3:c.1669A>G NP_078961.3:p.Ile557Val
NM_024685.4:c.1669A>G MANE Select NP_078961.3:p.Ile557Val
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Search 100 bp 3'