Canonical Allele Identifier: CA4276304

Gene: GUSB

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65974362C>T , CM000669.2:g.65974362C>T	GRCh38
NC_000007.13:g.65439349C>T , CM000669.1:g.65439349C>T	GRCh37
NC_000007.12:g.65076784C>T	NCBI36
NG_016197.1:g.12953G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000181.4:c.1324G>A MANE Select	NP_000172.2:p.Ala442Thr
ENST00000304895.9:c.1324G>A MANE Select	ENSP00000302728.4:p.Ala442Thr
NM_000181.3:c.1324G>A	NP_000172.2:p.Ala442Thr
NM_001284290.1:c.886G>A	NP_001271219.1:p.Ala296Thr
NM_001284290.2:c.886G>A	NP_001271219.1:p.Ala296Thr
NM_001293104.1:c.754G>A	NP_001280033.1:p.Ala252Thr
NM_001293104.2:c.754G>A	NP_001280033.1:p.Ala252Thr
NM_001293105.1:c.667G>A	NP_001280034.1:p.Ala223Thr
NM_001293105.2:c.667G>A	NP_001280034.1:p.Ala223Thr
NR_120531.1:n.1455G>A
NR_120531.2:n.1354G>A
ENST00000304895.8:c.1324G>A	ENSP00000302728.4:p.Ala442Thr
ENST00000421103.5:c.886G>A	ENSP00000391390.1:p.Ala296Thr
ENST00000430730.5:c.*591G>A	ENSP00000411859.1:n.*591G>A
ENST00000447929.5:c.*704G>A	ENSP00000411262.1:n.*704G>A
ENST00000462371.1:n.362G>A
ENST00000465785.5:n.557G>A
ENST00000466883.5:n.1799G>A
ENST00000479038.1:n.447G>A
XM_005250297.3:c.1171G>A	XP_005250354.1:p.Ala391Thr
XM_005250297.4:c.1171G>A	XP_005250354.1:p.Ala391Thr
XM_011516113.1:c.823G>A	XP_011514415.1:p.Ala275Thr
XM_011516114.1:c.652G>A	XP_011514416.1:p.Ala218Thr
XM_011516114.2:c.652G>A	XP_011514416.1:p.Ala218Thr
XM_017012091.1:c.670G>A	XP_016867580.1:p.Ala224Thr
XM_017012092.1:c.601G>A	XP_016867581.1:p.Ala201Thr
XM_017012093.2:c.499G>A	XP_016867582.1:p.Ala167Thr
XR_001744658.2:n.1216G>A
XR_001744659.2:n.1329G>A
XR_001744660.2:n.1176G>A
XR_001744661.2:n.1176G>A
XR_927461.1:n.1410G>A
XR_927461.3:n.1329G>A