Canonical Allele Identifier: CA149562
Gene: BBS12 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.122742008T>C
GRCh37 chr4:g.123663163T>C
Revel Score:
ENST00000314218 (MANE Select) 0.664
ENST00000542236 0.664
ENST00000433287 0.664
gnomAD v2:
4:123663163 T / C
gnomAD v3:
4:122742008 T / C
gnomAD v4:
chr4-122742008-T-C
Joint Max Group AF 0.00952921 (MID)
Genomes Max Group AF 0.01005714 (AMR)
Exomes Max Group AF 0.00954604 (MID)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.122742008T>C , CM000666.2:g.122742008T>C GRCh38
NC_000004.11:g.123663163T>C , CM000666.1:g.123663163T>C GRCh37
NC_000004.10:g.123882613T>C NCBI36
NG_021203.1:g.14307T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000314218.8:c.116T>C MANE Select ENSP00000319062.3:p.Ile39Thr
ENST00000314218.7:c.116T>C ENSP00000319062.3:p.Ile39Thr
ENST00000433287.1:c.116T>C ENSP00000398912.1:p.Ile39Thr
ENST00000542236.5:c.116T>C ENSP00000438273.1:p.Ile39Thr
NM_001178007.1:c.116T>C NP_001171478.1:p.Ile39Thr
NM_152618.2:c.116T>C NP_689831.2:p.Ile39Thr
XM_011531680.1:c.116T>C XP_011529982.1:p.Ile39Thr
XM_011531680.2:c.116T>C XP_011529982.1:p.Ile39Thr
XM_017007831.1:c.116T>C XP_016863320.1:p.Ile39Thr
NM_152618.3:c.116T>C MANE Select NP_689831.2:p.Ile39Thr
NM_001178007.2:c.116T>C NP_001171478.1:p.Ile39Thr
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