Canonical Allele Identifier: CA393079607

Gene: BBS4

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72735137T>A , CM000677.2:g.72735137T>A	GRCh38
NC_000015.9:g.73027478T>A , CM000677.1:g.73027478T>A	GRCh37
NC_000015.8:g.70814531T>A	NCBI36
NG_009416.2:g.53953T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_033028.5:c.1061T>A MANE Select	NP_149017.2:p.Ile354Lys
ENST00000268057.9:c.1061T>A MANE Select	ENSP00000268057.4:p.Ile354Lys
NM_001252678.1:c.545T>A	NP_001239607.1:p.Ile182Lys
NM_001252678.2:c.545T>A	NP_001239607.1:p.Ile182Lys
NM_001320665.1:c.992T>A	NP_001307594.1:p.Ile331Lys
NM_001320665.2:c.992T>A	NP_001307594.1:p.Ile331Lys
NM_033028.4:c.1061T>A	NP_149017.2:p.Ile354Lys
NR_045565.1:n.1168T>A
NR_045565.2:n.1140T>A
NR_045566.1:n.1423T>A
NR_045566.2:n.1395T>A
ENST00000268057.8:c.1061T>A	ENSP00000268057.4:p.Ile354Lys
ENST00000395205.6:c.545T>A	ENSP00000378631.3:p.Ile182Lys
ENST00000562084.5:c.*1140T>A	ENSP00000454718.1:n.*1140T>A
ENST00000562219.1:n.496T>A
ENST00000566197.1:c.106T>A
ENST00000566400.5:c.*951T>A	ENSP00000456759.1:n.*951T>A
ENST00000567279.5:c.*915T>A	ENSP00000456664.1:n.*915T>A
ENST00000569151.1:n.195T>A
XM_006720625.2:c.992T>A	XP_006720688.1:p.Ile331Lys
XM_011521848.1:c.545T>A	XP_011520150.1:p.Ile182Lys
XM_011521849.1:c.545T>A	XP_011520151.1:p.Ile182Lys
XM_011521850.1:c.545T>A	XP_011520152.1:p.Ile182Lys
XM_011521851.1:c.329T>A	XP_011520153.1:p.Ile110Lys
XM_017022450.1:c.1016T>A	XP_016877939.1:p.Ile339Lys
XM_017022452.1:c.545T>A	XP_016877941.1:p.Ile182Lys
XM_017022453.1:c.545T>A	XP_016877942.1:p.Ile182Lys
XM_017022454.1:c.545T>A	XP_016877943.1:p.Ile182Lys