Canonical Allele Identifier: CA3069348
Gene: BBS12 HGNC NCBI

Linked Data

ClinVar Variation Id: 2171438
ClinVar RCV Id: RCV003086915 RCV003404088 RCV003095766
dbSNP Id: rs147734969
ExAC: 4:123663958 G / A
gnomAD v2: 4-123663958-G-A
gnomAD v3: 4-122742803-G-A
gnomAD v4: 4-122742803-G-A
MyVariant Identifiers: chr4:g.123663958G>A (hg19) chr4:g.122742803G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.122742803G>A , CM000666.2:g.122742803G>A GRCh38
NC_000004.11:g.123663958G>A , CM000666.1:g.123663958G>A GRCh37
NC_000004.10:g.123883408G>A NCBI36
NG_021203.1:g.15102G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000314218.8:c.911G>A MANE Select ENSP00000319062.3:p.Cys304Tyr
ENST00000314218.7:c.911G>A ENSP00000319062.3:p.Cys304Tyr
ENST00000542236.5:c.911G>A ENSP00000438273.1:p.Cys304Tyr
NM_001178007.1:c.911G>A NP_001171478.1:p.Cys304Tyr
NM_152618.2:c.911G>A NP_689831.2:p.Cys304Tyr
XM_011531680.1:c.911G>A XP_011529982.1:p.Cys304Tyr
XM_011531680.2:c.911G>A XP_011529982.1:p.Cys304Tyr
XM_017007831.1:c.911G>A XP_016863320.1:p.Cys304Tyr
NM_152618.3:c.911G>A MANE Select NP_689831.2:p.Cys304Tyr
NM_001178007.2:c.911G>A NP_001171478.1:p.Cys304Tyr
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