Canonical Allele Identifier: CA348258
Gene: BBS12 HGNC NCBI
COSMIC:
COSM586019
MyVariant.info:
GRCh38 chr4:g.122743466G>A
GRCh37 chr4:g.123664621G>A
Revel Score:
ENST00000314218 (MANE Select) 0.636
ENST00000542236 0.636
gnomAD v2:
4:123664621 G / A
gnomAD v4:
chr4-122743466-G-A
Joint Max Group AF 0.00001994 (NFE)
Exomes Max Group AF 0.00002116 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.122743466G>A , CM000666.2:g.122743466G>A GRCh38
NC_000004.11:g.123664621G>A , CM000666.1:g.123664621G>A GRCh37
NC_000004.10:g.123884071G>A NCBI36
NG_021203.1:g.15765G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000314218.8:c.1574G>A MANE Select ENSP00000319062.3:p.Arg525His
ENST00000314218.7:c.1574G>A ENSP00000319062.3:p.Arg525His
ENST00000542236.5:c.1574G>A ENSP00000438273.1:p.Arg525His
NM_001178007.1:c.1574G>A NP_001171478.1:p.Arg525His
NM_152618.2:c.1574G>A NP_689831.2:p.Arg525His
XM_011531680.1:c.1574G>A XP_011529982.1:p.Arg525His
XM_011531680.2:c.1574G>A XP_011529982.1:p.Arg525His
XM_017007831.1:c.1574G>A XP_016863320.1:p.Arg525His
NM_152618.3:c.1574G>A MANE Select NP_689831.2:p.Arg525His
NM_001178007.2:c.1574G>A NP_001171478.1:p.Arg525His
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