Canonical Allele Identifier: CA241843
Gene: BBS12 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.122742870T>A
GRCh37 chr4:g.123664025T>A
gnomAD v2:
4:123664025 T / A
gnomAD v3:
4:122742870 T / A
gnomAD v4:
chr4-122742870-T-A
Joint Max Group AF 0.000625 (AFR)
Genomes Max Group AF 0.00068411 (AFR)
Exomes Max Group AF 0.0004203 (AFR)
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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=
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