Canonical Allele Identifier: CA179768

Gene: BBS10

Linked Data

• ClinVar Variation Id: 166721
• ClinVar RCV Id: RCV000152825 ; RCV000270164 ; RCV000576464 ; RCV001706010
• dbSNP Id: rs35676114
• ExAC: 12:76740149 G / A
• gnomAD v2: 12-76740149-G-A
• gnomAD v3: 12-76346369-G-A
• gnomAD v4: 12-76346369-G-A
• MyVariant Identifiers: chr12:g.76740149G>A (hg19) ; chr12:g.76346369G>A (hg38)
• PubMed: PMID:20120035

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.76346369G>A , CM000674.2:g.76346369G>A	GRCh38
NC_000012.11:g.76740149G>A , CM000674.1:g.76740149G>A	GRCh37
NC_000012.10:g.75264280G>A	NCBI36
NG_016357.1:g.7074C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650064.2:c.1616C>T MANE Select	ENSP00000497413.1:p.Pro539Leu
ENST00000393262.3:c.1616C>T	ENSP00000376946.3:p.Pro539Leu
NM_024685.3:c.1616C>T	NP_078961.3:p.Pro539Leu
NM_024685.4:c.1616C>T MANE Select	NP_078961.3:p.Pro539Leu