Canonical Allele Identifier: CA385810745

Gene: BBS10

Linked Data

• ClinVar Variation Id: 1471349
• ClinVar RCV Id: RCV002002623
• dbSNP Id: rs1444034224
• gnomAD v2: 12-76740137-T-C
• gnomAD v3: 12-76346357-T-C
• gnomAD v4: 12-76346357-T-C
• COSMIC: COSM1184499
• MyVariant Identifiers: chr12:g.76740137T>C (hg19) ; chr12:g.76346357T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.76346357T>C , CM000674.2:g.76346357T>C	GRCh38
NC_000012.11:g.76740137T>C , CM000674.1:g.76740137T>C	GRCh37
NC_000012.10:g.75264268T>C	NCBI36
NG_016357.1:g.7086A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650064.2:c.1628A>G MANE Select	ENSP00000497413.1:p.Asn543Ser
ENST00000393262.3:c.1628A>G	ENSP00000376946.3:p.Asn543Ser
NM_024685.3:c.1628A>G	NP_078961.3:p.Asn543Ser
NM_024685.4:c.1628A>G MANE Select	NP_078961.3:p.Asn543Ser