Canonical Allele Identifier: CA6694359

Gene: BBS10

Linked Data

• ClinVar Variation Id: 310496
• ClinVar RCV Id: RCV000281100 ; RCV002522254 ; RCV003897713
• dbSNP Id: rs369066076
• ExAC: 12:76741372 C / T
• gnomAD v2: 12-76741372-C-T
• gnomAD v3: 12-76347592-C-T
• gnomAD v4: 12-76347592-C-T
• MyVariant Identifiers: chr12:g.76741372C>T (hg19) ; chr12:g.76347592C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.76347592C>T , CM000674.2:g.76347592C>T	GRCh38
NC_000012.11:g.76741372C>T , CM000674.1:g.76741372C>T	GRCh37
NC_000012.10:g.75265503C>T	NCBI36
NG_016357.1:g.5851G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650064.2:c.393G>A MANE Select	ENSP00000497413.1:p.Gln131=
ENST00000393262.3:c.393G>A	ENSP00000376946.3:p.Gln131=
NM_024685.3:c.393G>A	NP_078961.3:p.Gln131=
NM_024685.4:c.393G>A MANE Select	NP_078961.3:p.Gln131=