Canonical Allele Identifier: CA6694129

Gene: BBS10

Linked Data

• ClinVar Variation Id: 261755
• ClinVar RCV Id: RCV000243352 ; RCV000638386 ; RCV001274501 ; RCV001699273
• dbSNP Id: rs139719799
• ExAC: 12:76740096 T / C
• gnomAD v2: 12-76740096-T-C
• gnomAD v3: 12-76346316-T-C
• gnomAD v4: 12-76346316-T-C
• MyVariant Identifiers: chr12:g.76740096T>C (hg19) ; chr12:g.76346316T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.76346316T>C , CM000674.2:g.76346316T>C	GRCh38
NC_000012.11:g.76740096T>C , CM000674.1:g.76740096T>C	GRCh37
NC_000012.10:g.75264227T>C	NCBI36
NG_016357.1:g.7127A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650064.2:c.1669A>G MANE Select	ENSP00000497413.1:p.Ile557Val
ENST00000393262.3:c.1669A>G	ENSP00000376946.3:p.Ile557Val
NM_024685.3:c.1669A>G	NP_078961.3:p.Ile557Val
NM_024685.4:c.1669A>G MANE Select	NP_078961.3:p.Ile557Val