Canonical Allele Identifier: CA6694328

Gene: BBS10

Linked Data

• ClinVar Variation Id: 287666
• ClinVar RCV Id: RCV000383300 ; RCV001045375 ; RCV001833376 ; RCV003949902
• dbSNP Id: rs748732850
• ExAC: 12:76741282 T / C
• gnomAD v2: 12-76741282-T-C
• gnomAD v3: 12-76347502-T-C
• gnomAD v4: 12-76347502-T-C
• MyVariant Identifiers: chr12:g.76741282T>C (hg19) ; chr12:g.76347502T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.76347502T>C , CM000674.2:g.76347502T>C	GRCh38
NC_000012.11:g.76741282T>C , CM000674.1:g.76741282T>C	GRCh37
NC_000012.10:g.75265413T>C	NCBI36
NG_016357.1:g.5941A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650064.2:c.483A>G MANE Select	ENSP00000497413.1:p.Lys161=
ENST00000393262.3:c.483A>G	ENSP00000376946.3:p.Lys161=
NM_024685.3:c.483A>G	NP_078961.3:p.Lys161=
NM_024685.4:c.483A>G MANE Select	NP_078961.3:p.Lys161=