Canonical Allele Identifier: CA6694269

Gene: BBS10

Linked Data

• ClinVar Variation Id: 658119
• ClinVar RCV Id: RCV000814869 ; RCV001276474 ; RCV001702720 ; RCV001816892 ; RCV002537389 ; RCV003411796
• dbSNP Id: rs150587582
• ExAC: 12:76740879 C / T
• gnomAD v2: 12-76740879-C-T
• gnomAD v3: 12-76347099-C-T
• gnomAD v4: 12-76347099-C-T
• MyVariant Identifiers: chr12:g.76740879C>T (hg19) ; chr12:g.76347099C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.76347099C>T , CM000674.2:g.76347099C>T	GRCh38
NC_000012.11:g.76740879C>T , CM000674.1:g.76740879C>T	GRCh37
NC_000012.10:g.75265010C>T	NCBI36
NG_016357.1:g.6344G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650064.2:c.886G>A MANE Select	ENSP00000497413.1:p.Ala296Thr
ENST00000393262.3:c.886G>A	ENSP00000376946.3:p.Ala296Thr
NM_024685.3:c.886G>A	NP_078961.3:p.Ala296Thr
NM_024685.4:c.886G>A MANE Select	NP_078961.3:p.Ala296Thr