Canonical Allele Identifier: CA358222512

Gene: BBS12

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.122742142G>A , CM000666.2:g.122742142G>A	GRCh38
NC_000004.11:g.123663297G>A , CM000666.1:g.123663297G>A	GRCh37
NC_000004.10:g.123882747G>A	NCBI36
NG_021203.1:g.14441G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_152618.3:c.250G>A MANE Select	NP_689831.2:p.Gly84Arg
ENST00000314218.8:c.250G>A MANE Select	ENSP00000319062.3:p.Gly84Arg
NM_001178007.1:c.250G>A	NP_001171478.1:p.Gly84Arg
NM_001178007.2:c.250G>A	NP_001171478.1:p.Gly84Arg
NM_152618.2:c.250G>A	NP_689831.2:p.Gly84Arg
ENST00000314218.7:c.250G>A	ENSP00000319062.3:p.Gly84Arg
ENST00000433287.1:c.250G>A	ENSP00000398912.1:p.Gly84Arg
ENST00000542236.5:c.250G>A	ENSP00000438273.1:p.Gly84Arg
XM_011531680.1:c.250G>A	XP_011529982.1:p.Gly84Arg
XM_011531680.2:c.250G>A	XP_011529982.1:p.Gly84Arg
XM_017007831.1:c.250G>A	XP_016863320.1:p.Gly84Arg