Canonical Allele Identifier: CA274166

Gene: BBS10

Linked Data

• ClinVar Variation Id: 188943
• ClinVar RCV Id: RCV000169317 ; RCV001244659 ; RCV003390883
• dbSNP Id: rs786204575
• gnomAD v2: 12-76740524-A-G
• gnomAD v3: 12-76346744-A-G
• gnomAD v4: 12-76346744-A-G
• MyVariant Identifiers: chr12:g.76740524A>G (hg19) ; chr12:g.76346744A>G (hg38)
• PubMed: PMID:16582908 ; PMID:20177705 ; PMID:20472660 ; PMID:20876674 ; PMID:21157496 ; PMID:21344540 ; PMID:21517826 ; PMID:22773737 ; PMID:22958920

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.76346744A>G , CM000674.2:g.76346744A>G	GRCh38
NC_000012.11:g.76740524A>G , CM000674.1:g.76740524A>G	GRCh37
NC_000012.10:g.75264655A>G	NCBI36
NG_016357.1:g.6699T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650064.2:c.1241T>C MANE Select	ENSP00000497413.1:p.Leu414Ser
ENST00000393262.3:c.1241T>C	ENSP00000376946.3:p.Leu414Ser
NM_024685.3:c.1241T>C	NP_078961.3:p.Leu414Ser
NM_024685.4:c.1241T>C MANE Select	NP_078961.3:p.Leu414Ser