Canonical Allele Identifier: CA104766063

Gene: BBS7

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.121853015C>T , CM000666.2:g.121853015C>T	GRCh38
NC_000004.11:g.122774170C>T , CM000666.1:g.122774170C>T	GRCh37
NC_000004.10:g.122993620C>T	NCBI36
NG_009111.1:g.22473G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_176824.3:c.790G>A MANE Select	NP_789794.1:p.Gly264Arg
ENST00000264499.9:c.790G>A MANE Select	ENSP00000264499.4:p.Gly264Arg
NM_018190.3:c.790G>A	NP_060660.2:p.Gly264Arg
NM_018190.4:c.790G>A	NP_060660.2:p.Gly264Arg
NM_176824.2:c.790G>A	NP_789794.1:p.Gly264Arg
ENST00000264499.8:c.790G>A	ENSP00000264499.4:p.Gly264Arg
ENST00000506636.1:c.790G>A	ENSP00000423626.1:p.Gly264Arg
XM_005263106.2:c.793G>A	XP_005263163.1:p.Gly265Arg
XM_005263106.4:c.793G>A	XP_005263163.1:p.Gly265Arg
XM_011532079.1:c.838G>A	XP_011530381.1:p.Gly280Arg
XM_011532079.3:c.838G>A	XP_011530381.1:p.Gly280Arg
XM_011532080.1:c.835G>A	XP_011530382.1:p.Gly279Arg
XM_011532080.3:c.835G>A	XP_011530382.1:p.Gly279Arg
XM_011532081.1:c.838G>A	XP_011530383.1:p.Gly280Arg
XM_011532081.3:c.838G>A	XP_011530383.1:p.Gly280Arg
XM_017008357.2:c.790G>A	XP_016863846.1:p.Gly264Arg
XM_017008358.2:c.793G>A	XP_016863847.1:p.Gly265Arg