Canonical Allele Identifier: CA241802

Gene: BBS10

Linked Data

• ClinVar Variation Id: 195379
• ClinVar RCV Id: RCV000175947 ; RCV000671818 ; RCV002516694
• dbSNP Id: rs575957641
• ExAC: 12:76739927 T / C
• gnomAD v2: 12-76739927-T-C
• gnomAD v3: 12-76346147-T-C
• gnomAD v4: 12-76346147-T-C
• MyVariant Identifiers: chr12:g.76739927T>C (hg19) ; chr12:g.76346147T>C (hg38)
• PubMed: PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.76346147T>C , CM000674.2:g.76346147T>C	GRCh38
NC_000012.11:g.76739927T>C , CM000674.1:g.76739927T>C	GRCh37
NC_000012.10:g.75264058T>C	NCBI36
NG_016357.1:g.7296A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650064.2:c.1838A>G MANE Select	ENSP00000497413.1:p.Tyr613Cys
ENST00000393262.3:c.1838A>G	ENSP00000376946.3:p.Tyr613Cys
NM_024685.3:c.1838A>G	NP_078961.3:p.Tyr613Cys
NM_024685.4:c.1838A>G MANE Select	NP_078961.3:p.Tyr613Cys