Canonical Allele Identifier: CA259914

Gene: BBS10

Linked Data

• ClinVar Variation Id: 30818
• ClinVar RCV Id: RCV000023803 ; RCV000225785 ; RCV000732709 ; RCV003228900
• dbSNP Id: rs148374859
• ExAC: 12:76741492 G / C
• gnomAD v2: 12-76741492-G-C
• gnomAD v3: 12-76347712-G-C
• gnomAD v4: 12-76347712-G-C
• MyVariant Identifiers: chr12:g.76741492G>C (hg19) ; chr12:g.76347712G>C (hg38)
• PubMed: PMID:20805367

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.76347712G>C , CM000674.2:g.76347712G>C	GRCh38
NC_000012.11:g.76741492G>C , CM000674.1:g.76741492G>C	GRCh37
NC_000012.10:g.75265623G>C	NCBI36
NG_016357.1:g.5731C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650064.2:c.273C>G MANE Select	ENSP00000497413.1:p.Cys91Trp
ENST00000393262.3:c.273C>G	ENSP00000376946.3:p.Cys91Trp
NM_024685.3:c.273C>G	NP_078961.3:p.Cys91Trp
NM_024685.4:c.273C>G MANE Select	NP_078961.3:p.Cys91Trp