Canonical Allele Identifier: CA3069551
Gene: BBS12 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.122743912C>T
GRCh37 chr4:g.123665067C>T
Revel Score:
ENST00000314218 (MANE Select) 0.737
ENST00000542236 0.737
gnomAD v2:
4:123665067 C / T
gnomAD v3:
4:122743912 C / T
gnomAD v4:
chr4-122743912-C-T
Joint Max Group AF 0.00000956 (NFE)
Genomes Max Group AF 0.0000117 (NFE)
Exomes Max Group AF 0.00000813 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.122743912C>T , CM000666.2:g.122743912C>T GRCh38
NC_000004.11:g.123665067C>T , CM000666.1:g.123665067C>T GRCh37
NC_000004.10:g.123884517C>T NCBI36
NG_021203.1:g.16211C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000314218.8:c.2020C>T MANE Select ENSP00000319062.3:p.Arg674Cys
ENST00000314218.7:c.2020C>T ENSP00000319062.3:p.Arg674Cys
ENST00000542236.5:c.2020C>T ENSP00000438273.1:p.Arg674Cys
NM_001178007.1:c.2020C>T NP_001171478.1:p.Arg674Cys
NM_152618.2:c.2020C>T NP_689831.2:p.Arg674Cys
XM_011531680.1:c.2020C>T XP_011529982.1:p.Arg674Cys
XM_011531680.2:c.2020C>T XP_011529982.1:p.Arg674Cys
XM_017007831.1:c.2020C>T XP_016863320.1:p.Arg674Cys
NM_152618.3:c.2020C>T MANE Select NP_689831.2:p.Arg674Cys
NM_001178007.2:c.2020C>T NP_001171478.1:p.Arg674Cys
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