Canonical Allele Identifier: CA6694392

Gene: BBS10

Linked Data

• ClinVar Variation Id: 310497
• ClinVar RCV Id: RCV000391618 ; RCV001094136
• dbSNP Id: rs376497190
• ExAC: 12:76741577 A / G
• gnomAD v2: 12-76741577-A-G
• gnomAD v3: 12-76347797-A-G
• gnomAD v4: 12-76347797-A-G
• MyVariant Identifiers: chr12:g.76741577A>G (hg19) ; chr12:g.76347797A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.76347797A>G , CM000674.2:g.76347797A>G	GRCh38
NC_000012.11:g.76741577A>G , CM000674.1:g.76741577A>G	GRCh37
NC_000012.10:g.75265708A>G	NCBI36
NG_016357.1:g.5646T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650064.2:c.198-10T>C MANE Select	ENSP00000497413.1:n.198-10T>C
ENST00000393262.3:c.198-10T>C	ENSP00000376946.3:n.198-10T>C
NM_024685.3:c.198-10T>C	NP_078961.3:n.198-10T>C
NM_024685.4:c.198-10T>C MANE Select	NP_078961.3:n.198-10T>C