Canonical Allele Identifier: CA385813595
Gene: BBS10 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.76740840G>T (hg19) chr12:g.76347060G>T (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.925C>A MANE Select ENSP00000497413.1:p.Leu309Ile
ENST00000393262.3:c.925C>A ENSP00000376946.3:p.Leu309Ile
NM_024685.3:c.925C>A NP_078961.3:p.Leu309Ile
NM_024685.4:c.925C>A MANE Select NP_078961.3:p.Leu309Ile
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