Canonical Allele Identifier: CA606185884
Gene: BBS10 HGNC NCBI

Linked Data

dbSNP Id: rs1345557556
gnomAD v2: 12-76739566-A-T
gnomAD v3: 12-76345786-A-T
gnomAD v4: 12-76345786-A-T
MyVariant Identifiers: chr12:g.76739566A>T (hg19) chr12:g.76345786A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76345786A>T , CM000674.2:g.76345786A>T GRCh38
NC_000012.11:g.76739566A>T , CM000674.1:g.76739566A>T GRCh37
NC_000012.10:g.75263697A>T NCBI36
NG_016357.1:g.7657T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.*27T>A MANE Select ENSP00000497413.1:n.*27T>A
ENST00000393262.3:c.*27T>A ENSP00000376946.3:n.*27T>A
NM_024685.3:c.*27T>A NP_078961.3:n.*27T>A
NM_024685.4:c.*27T>A MANE Select NP_078961.3:n.*27T>A
Search 100 bp 5'
Search 100 bp 3'