Canonical Allele Identifier: CA6694118
Gene: BBS10 HGNC NCBI

Linked Data

ClinVar Variation Id: 971057
ClinVar RCV Id: RCV001246747 RCV001829997 RCV003405450
dbSNP Id: rs373626588
ExAC: 12:76740065 A / G
gnomAD v2: 12-76740065-A-G
gnomAD v3: 12-76346285-A-G
gnomAD v4: 12-76346285-A-G
MyVariant Identifiers: chr12:g.76740065A>G (hg19) chr12:g.76346285A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76346285A>G , CM000674.2:g.76346285A>G GRCh38
NC_000012.11:g.76740065A>G , CM000674.1:g.76740065A>G GRCh37
NC_000012.10:g.75264196A>G NCBI36
NG_016357.1:g.7158T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.1700T>C MANE Select ENSP00000497413.1:p.Ile567Thr
ENST00000393262.3:c.1700T>C ENSP00000376946.3:p.Ile567Thr
NM_024685.3:c.1700T>C NP_078961.3:p.Ile567Thr
NM_024685.4:c.1700T>C MANE Select NP_078961.3:p.Ile567Thr
Search 100 bp 5'
Search 100 bp 3'