Canonical Allele Identifier: CA385813599
Gene: BBS10 HGNC NCBI

Linked Data

ClinVar Variation Id: 2503454
ClinVar RCV Id: RCV003326727
gnomAD v4: 12-76347061-C-A
MyVariant Identifiers: chr12:g.76740841C>A (hg19) chr12:g.76347061C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76347061C>A , CM000674.2:g.76347061C>A GRCh38
NC_000012.11:g.76740841C>A , CM000674.1:g.76740841C>A GRCh37
NC_000012.10:g.75264972C>A NCBI36
NG_016357.1:g.6382G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.924G>T MANE Select ENSP00000497413.1:p.Leu308Phe
ENST00000393262.3:c.924G>T ENSP00000376946.3:p.Leu308Phe
NM_024685.3:c.924G>T NP_078961.3:p.Leu308Phe
NM_024685.4:c.924G>T MANE Select NP_078961.3:p.Leu308Phe
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Search 100 bp 3'