Canonical Allele Identifier: CA6694121
Gene: BBS10 HGNC NCBI

Linked Data

ClinVar Variation Id: 2979793
ClinVar RCV Id: RCV003834903
dbSNP Id: rs111773727
ExAC: 12:76740081 A / C
gnomAD v2: 12-76740081-A-C
gnomAD v4: 12-76346301-A-C
MyVariant Identifiers: chr12:g.76740081A>C (hg19) chr12:g.76346301A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76346301A>C , CM000674.2:g.76346301A>C GRCh38
NC_000012.11:g.76740081A>C , CM000674.1:g.76740081A>C GRCh37
NC_000012.10:g.75264212A>C NCBI36
NG_016357.1:g.7142T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.1684T>G MANE Select ENSP00000497413.1:p.Leu562Val
ENST00000393262.3:c.1684T>G ENSP00000376946.3:p.Leu562Val
NM_024685.3:c.1684T>G NP_078961.3:p.Leu562Val
NM_024685.4:c.1684T>G MANE Select NP_078961.3:p.Leu562Val
Search 100 bp 5'
Search 100 bp 3'