Canonical Allele Identifier: CA367644059

Gene: GUSB

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65974625C>T , CM000669.2:g.65974625C>T	GRCh38
NC_000007.13:g.65439612C>T , CM000669.1:g.65439612C>T	GRCh37
NC_000007.12:g.65077047C>T	NCBI36
NG_016197.1:g.12690G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000181.4:c.1145G>A MANE Select	NP_000172.2:p.Arg382His
ENST00000304895.9:c.1145G>A MANE Select	ENSP00000302728.4:p.Arg382His
NM_000181.3:c.1145G>A	NP_000172.2:p.Arg382His
NM_001284290.1:c.707G>A	NP_001271219.1:p.Arg236His
NM_001284290.2:c.707G>A	NP_001271219.1:p.Arg236His
NM_001293104.1:c.575G>A	NP_001280033.1:p.Arg192His
NM_001293104.2:c.575G>A	NP_001280033.1:p.Arg192His
NM_001293105.1:c.488G>A	NP_001280034.1:p.Arg163His
NM_001293105.2:c.488G>A	NP_001280034.1:p.Arg163His
NR_120531.1:n.1276G>A
NR_120531.2:n.1175G>A
ENST00000304895.8:c.1145G>A	ENSP00000302728.4:p.Arg382His
ENST00000421103.5:c.707G>A	ENSP00000391390.1:p.Arg236His
ENST00000430730.5:c.*412G>A	ENSP00000411859.1:n.*412G>A
ENST00000447929.5:c.*525G>A	ENSP00000411262.1:n.*525G>A
ENST00000462371.1:n.223G>A
ENST00000465785.5:n.378G>A
ENST00000466883.5:n.1536G>A
ENST00000475316.5:n.383G>A
ENST00000479038.1:n.268G>A
ENST00000489482.1:n.382G>A
XM_005250297.3:c.992G>A	XP_005250354.1:p.Arg331His
XM_005250297.4:c.992G>A	XP_005250354.1:p.Arg331His
XM_011516113.1:c.644G>A	XP_011514415.1:p.Arg215His
XM_011516114.1:c.473G>A	XP_011514416.1:p.Arg158His
XM_011516114.2:c.473G>A	XP_011514416.1:p.Arg158His
XM_017012091.1:c.491G>A	XP_016867580.1:p.Arg164His
XM_017012092.1:c.422G>A	XP_016867581.1:p.Arg141His
XM_017012093.2:c.320G>A	XP_016867582.1:p.Arg107His
XR_001744658.2:n.1037G>A
XR_001744659.2:n.1190G>A
XR_001744660.2:n.1037G>A
XR_001744661.2:n.1037G>A
XR_927461.1:n.1271G>A
XR_927461.3:n.1190G>A