Canonical Allele Identifier: CA385813594
Gene: BBS10 HGNC NCBI

Linked Data

ClinVar Variation Id: 1485658
ClinVar RCV Id: RCV002000897
dbSNP Id: rs2136090757
gnomAD v4: 12-76347060-G-A
COSMIC: COSM5644016
MyVariant Identifiers: chr12:g.76740840G>A (hg19) chr12:g.76347060G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76347060G>A , CM000674.2:g.76347060G>A GRCh38
NC_000012.11:g.76740840G>A , CM000674.1:g.76740840G>A GRCh37
NC_000012.10:g.75264971G>A NCBI36
NG_016357.1:g.6383C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.925C>T MANE Select ENSP00000497413.1:p.Leu309Phe
ENST00000393262.3:c.925C>T ENSP00000376946.3:p.Leu309Phe
NM_024685.3:c.925C>T NP_078961.3:p.Leu309Phe
NM_024685.4:c.925C>T MANE Select NP_078961.3:p.Leu309Phe
Search 100 bp 5'
Search 100 bp 3'