Canonical Allele Identifier: CA4276345

Gene: GUSB

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65974525C>T , CM000669.2:g.65974525C>T	GRCh38
NC_000007.13:g.65439512C>T , CM000669.1:g.65439512C>T	GRCh37
NC_000007.12:g.65076947C>T	NCBI36
NG_016197.1:g.12790G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000181.4:c.1244+1G>A MANE Select	NP_000172.2:n.1244+1G>A
ENST00000304895.9:c.1244+1G>A MANE Select	ENSP00000302728.4:n.1244+1G>A
NM_000181.3:c.1244+1G>A	NP_000172.2:n.1244+1G>A
NM_001284290.1:c.806+1G>A	NP_001271219.1:n.806+1G>A
NM_001284290.2:c.806+1G>A	NP_001271219.1:n.806+1G>A
NM_001293104.1:c.674+1G>A	NP_001280033.1:n.674+1G>A
NM_001293104.2:c.674+1G>A	NP_001280033.1:n.674+1G>A
NM_001293105.1:c.587+1G>A	NP_001280034.1:n.587+1G>A
NM_001293105.2:c.587+1G>A	NP_001280034.1:n.587+1G>A
NR_120531.1:n.1375+1G>A
NR_120531.2:n.1274+1G>A
ENST00000304895.8:c.1244+1G>A	ENSP00000302728.4:n.1244+1G>A
ENST00000421103.5:c.806+1G>A	ENSP00000391390.1:n.806+1G>A
ENST00000430730.5:c.*511+1G>A	ENSP00000411859.1:n.*511+1G>A
ENST00000447929.5:c.*624+1G>A	ENSP00000411262.1:n.*624+1G>A
ENST00000462371.1:n.322+1G>A
ENST00000465785.5:n.477+1G>A
ENST00000466883.5:n.1636G>A
ENST00000475316.5:n.483G>A
ENST00000479038.1:n.367+1G>A
ENST00000489482.1:n.481+1G>A
XM_005250297.3:c.1091+1G>A	XP_005250354.1:n.1091+1G>A
XM_005250297.4:c.1091+1G>A	XP_005250354.1:n.1091+1G>A
XM_011516113.1:c.743+1G>A	XP_011514415.1:n.743+1G>A
XM_011516114.1:c.572+1G>A	XP_011514416.1:n.572+1G>A
XM_011516114.2:c.572+1G>A	XP_011514416.1:n.572+1G>A
XM_017012091.1:c.590+1G>A	XP_016867580.1:n.590+1G>A
XM_017012092.1:c.521+1G>A	XP_016867581.1:n.521+1G>A
XM_017012093.2:c.419+1G>A	XP_016867582.1:n.419+1G>A
XR_001744658.2:n.1136+1G>A
XR_001744659.2:n.1289+1G>A
XR_001744660.2:n.1136+1G>A
XR_001744661.2:n.1136+1G>A
XR_927461.1:n.1370+1G>A
XR_927461.3:n.1289+1G>A