Canonical Allele Identifier: CA241843
Gene: BBS12 HGNC NCBI

Linked Data

ClinVar Variation Id: 195413
dbSNP Id: rs115635198

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.122742870T>A , CM000666.2:g.122742870T>A GRCh38
NC_000004.11:g.123664025T>A , CM000666.1:g.123664025T>A GRCh37
NC_000004.10:g.123883475T>A NCBI36
NG_021203.1:g.15169T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000314218.8:c.978T>A MANE Select ENSP00000319062.3:p.Thr326=
ENST00000314218.7:c.978T>A ENSP00000319062.3:p.Thr326=
ENST00000542236.5:c.978T>A ENSP00000438273.1:p.Thr326=
NM_001178007.1:c.978T>A NP_001171478.1:p.Thr326=
NM_152618.2:c.978T>A NP_689831.2:p.Thr326=
XM_011531680.1:c.978T>A XP_011529982.1:p.Thr326=
XM_011531680.2:c.978T>A XP_011529982.1:p.Thr326=
XM_017007831.1:c.978T>A XP_016863320.1:p.Thr326=
NM_152618.3:c.978T>A MANE Select NP_689831.2:p.Thr326=
NM_001178007.2:c.978T>A NP_001171478.1:p.Thr326=