Canonical Allele Identifier: CA385810487
Gene: BBS10 HGNC NCBI

Linked Data

ClinVar Variation Id: 1515337
ClinVar RCV Id: RCV002021017 RCV002486720
dbSNP Id: rs144402299
gnomAD v3: 12-76346289-T-G
gnomAD v4: 12-76346289-T-G
MyVariant Identifiers: chr12:g.76740069T>G (hg19) chr12:g.76346289T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76346289T>G , CM000674.2:g.76346289T>G GRCh38
NC_000012.11:g.76740069T>G , CM000674.1:g.76740069T>G GRCh37
NC_000012.10:g.75264200T>G NCBI36
NG_016357.1:g.7154A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.1696A>C MANE Select ENSP00000497413.1:p.Asn566His
ENST00000393262.3:c.1696A>C ENSP00000376946.3:p.Asn566His
NM_024685.3:c.1696A>C NP_078961.3:p.Asn566His
NM_024685.4:c.1696A>C MANE Select NP_078961.3:p.Asn566His
Search 100 bp 5'
Search 100 bp 3'