Canonical Allele Identifier: CA358165

Gene: BBS10

Linked Data

• ClinVar Variation Id: 225010
• ClinVar RCV Id: RCV000210662 ; RCV000576728 ; RCV000626963 ; RCV000799037 ; RCV001075496 ; RCV001291592 ; RCV003228914 ; RCV003407735
• dbSNP Id: rs768933093
• ExAC: 12:76741994 G / A
• gnomAD v2: 12-76741994-G-A
• gnomAD v3: 12-76348214-G-A
• gnomAD v4: 12-76348214-G-A
• MyVariant Identifiers: chr12:g.76741994G>A (hg19) ; chr12:g.76348214G>A (hg38)
• PubMed: PMID:10874630 ; PMID:11179009 ; PMID:11567139 ; PMID:16582908 ; PMID:16823392 ; PMID:17980398 ; PMID:20080638 ; PMID:20120035 ; PMID:20177705 ; PMID:20498079 ; PMID:20805367 ; PMID:20876674 ; PMID:21044901 ; PMID:21209035 ; PMID:21344540 ; PMID:21517826 ; PMID:21642631 ; PMID:22353939 ; PMID:22713813 ; PMID:24746959 ; PMID:25982971

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.76348214G>A , CM000674.2:g.76348214G>A	GRCh38
NC_000012.11:g.76741994G>A , CM000674.1:g.76741994G>A	GRCh37
NC_000012.10:g.75266125G>A	NCBI36
NG_016357.1:g.5229C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650064.2:c.145C>T MANE Select	ENSP00000497413.1:p.Arg49Trp
ENST00000393262.3:c.145C>T	ENSP00000376946.3:p.Arg49Trp
NM_024685.3:c.145C>T	NP_078961.3:p.Arg49Trp
NM_024685.4:c.145C>T MANE Select	NP_078961.3:p.Arg49Trp