Canonical Allele Identifier: CA265992
Gene: BBS12 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.122742215C>G
GRCh37 chr4:g.123663370C>G
Revel Score:
ENST00000314218 (MANE Select) 0.862
ENST00000542236 0.862
ENST00000433287 0.862
gnomAD v4:
chr4-122742215-C-G
Joint Max Group AF 0.00000365 (SAS)
Exomes Max Group AF 0.00000385 (SAS)
ClinVar RCV:
RCV000058869
ClinVar Variation:
68065
dbSNP:
151344630
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.122742215C>G , CM000666.2:g.122742215C>G GRCh38
NC_000004.11:g.123663370C>G , CM000666.1:g.123663370C>G GRCh37
NC_000004.10:g.123882820C>G NCBI36
NG_021203.1:g.14514C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000314218.8:c.323C>G MANE Select ENSP00000319062.3:p.Pro108Arg
ENST00000314218.7:c.323C>G ENSP00000319062.3:p.Pro108Arg
ENST00000433287.1:c.323C>G ENSP00000398912.1:p.Pro108Arg
ENST00000542236.5:c.323C>G ENSP00000438273.1:p.Pro108Arg
NM_001178007.1:c.323C>G NP_001171478.1:p.Pro108Arg
NM_152618.2:c.323C>G NP_689831.2:p.Pro108Arg
XM_011531680.1:c.323C>G XP_011529982.1:p.Pro108Arg
XM_011531680.2:c.323C>G XP_011529982.1:p.Pro108Arg
XM_017007831.1:c.323C>G XP_016863320.1:p.Pro108Arg
NM_152618.3:c.323C>G MANE Select NP_689831.2:p.Pro108Arg
NM_001178007.2:c.323C>G NP_001171478.1:p.Pro108Arg
Search 100 bp 5'
Search 100 bp 3'