Canonical Allele Identifier: CA6694243

Gene: BBS10

Linked Data

• ClinVar Variation Id: 310493
• ClinVar RCV Id: RCV000388272 ; RCV000591216 ; RCV001859859 ; RCV003362753 ; RCV003422256
• dbSNP Id: rs201335653
• ExAC: 12:76740737 C / T
• gnomAD v2: 12-76740737-C-T
• gnomAD v3: 12-76346957-C-T
• gnomAD v4: 12-76346957-C-T
• MyVariant Identifiers: chr12:g.76740737C>T (hg19) ; chr12:g.76346957C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.76346957C>T , CM000674.2:g.76346957C>T	GRCh38
NC_000012.11:g.76740737C>T , CM000674.1:g.76740737C>T	GRCh37
NC_000012.10:g.75264868C>T	NCBI36
NG_016357.1:g.6486G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650064.2:c.1028G>A MANE Select	ENSP00000497413.1:p.Arg343Gln
ENST00000393262.3:c.1028G>A	ENSP00000376946.3:p.Arg343Gln
NM_024685.3:c.1028G>A	NP_078961.3:p.Arg343Gln
NM_024685.4:c.1028G>A MANE Select	NP_078961.3:p.Arg343Gln