Canonical Allele Identifier: CA367639136

Gene: GUSB

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65964459C>T , CM000669.2:g.65964459C>T	GRCh38
NC_000007.13:g.65429446C>T , CM000669.1:g.65429446C>T	GRCh37
NC_000007.12:g.65066881C>T	NCBI36
NG_016197.1:g.22856G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000181.4:c.1654-1G>A MANE Select	NP_000172.2:n.1654-1G>A
ENST00000304895.9:c.1654-1G>A MANE Select	ENSP00000302728.4:n.1654-1G>A
NM_000181.3:c.1654-1G>A	NP_000172.2:n.1654-1G>A
NM_001284290.1:c.1216-1G>A	NP_001271219.1:n.1216-1G>A
NM_001284290.2:c.1216-1G>A	NP_001271219.1:n.1216-1G>A
NM_001293104.1:c.1084-1G>A	NP_001280033.1:n.1084-1G>A
NM_001293104.2:c.1084-1G>A	NP_001280033.1:n.1084-1G>A
NM_001293105.1:c.997-1G>A	NP_001280034.1:n.997-1G>A
NM_001293105.2:c.997-1G>A	NP_001280034.1:n.997-1G>A
NR_120531.1:n.1700-1G>A
NR_120531.2:n.1599-1G>A
ENST00000304895.8:c.1654-1G>A	ENSP00000302728.4:n.1654-1G>A
ENST00000421103.5:c.1216-1G>A	ENSP00000391390.1:n.1216-1G>A
ENST00000430730.5:c.*921-1G>A	ENSP00000411859.1:n.*921-1G>A
ENST00000447929.5:c.*1034-1G>A	ENSP00000411262.1:n.*1034-1G>A
ENST00000461622.1:n.179-1G>A
ENST00000462371.1:n.692-1G>A
ENST00000466883.5:n.2044-1G>A
XM_005250297.3:c.1501-1G>A	XP_005250354.1:n.1501-1G>A
XM_005250297.4:c.1501-1G>A	XP_005250354.1:n.1501-1G>A
XM_011516113.1:c.1153-1G>A	XP_011514415.1:n.1153-1G>A
XM_011516114.1:c.982-1G>A	XP_011514416.1:n.982-1G>A
XM_011516114.2:c.982-1G>A	XP_011514416.1:n.982-1G>A
XM_017012091.1:c.1000-1G>A	XP_016867580.1:n.1000-1G>A
XM_017012092.1:c.931-1G>A	XP_016867581.1:n.931-1G>A
XM_017012093.2:c.829-1G>A	XP_016867582.1:n.829-1G>A
XR_001744658.2:n.1461-1G>A
XR_001744659.2:n.1574-1G>A
XR_001744660.2:n.1506-1G>A
XR_001744661.2:n.1421-1G>A
XR_927461.1:n.1740-1G>A
XR_927461.3:n.1659-1G>A