Canonical Allele Identifier: CA233510

Gene: BBS10

Linked Data

• ClinVar Variation Id: 166722
• ClinVar RCV Id: RCV000152826 ; RCV000671479 ; RCV001850085 ; RCV003422042
• dbSNP Id: rs375746803
• ExAC: 12:76740501 G / A
• gnomAD v2: 12-76740501-G-A
• gnomAD v3: 12-76346721-G-A
• gnomAD v4: 12-76346721-G-A
• MyVariant Identifiers: chr12:g.76740501G>A (hg19) ; chr12:g.76346721G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.76346721G>A , CM000674.2:g.76346721G>A	GRCh38
NC_000012.11:g.76740501G>A , CM000674.1:g.76740501G>A	GRCh37
NC_000012.10:g.75264632G>A	NCBI36
NG_016357.1:g.6722C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650064.2:c.1264C>T MANE Select	ENSP00000497413.1:p.Arg422Trp
ENST00000393262.3:c.1264C>T	ENSP00000376946.3:p.Arg422Trp
NM_024685.3:c.1264C>T	NP_078961.3:p.Arg422Trp
NM_024685.4:c.1264C>T MANE Select	NP_078961.3:p.Arg422Trp