Canonical Allele Identifier: CA4276384

Gene: GUSB

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65974709G>A , CM000669.2:g.65974709G>A	GRCh38
NC_000007.13:g.65439696G>A , CM000669.1:g.65439696G>A	GRCh37
NC_000007.12:g.65077131G>A	NCBI36
NG_016197.1:g.12606C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000181.4:c.1066-5C>T MANE Select	NP_000172.2:n.1066-5C>T
ENST00000304895.9:c.1066-5C>T MANE Select	ENSP00000302728.4:n.1066-5C>T
NM_000181.3:c.1066-5C>T	NP_000172.2:n.1066-5C>T
NM_001284290.1:c.628-5C>T	NP_001271219.1:n.628-5C>T
NM_001284290.2:c.628-5C>T	NP_001271219.1:n.628-5C>T
NM_001293104.1:c.496-5C>T	NP_001280033.1:n.496-5C>T
NM_001293104.2:c.496-5C>T	NP_001280033.1:n.496-5C>T
NM_001293105.1:c.409-5C>T	NP_001280034.1:n.409-5C>T
NM_001293105.2:c.409-5C>T	NP_001280034.1:n.409-5C>T
NR_120531.1:n.1197-5C>T
NR_120531.2:n.1096-5C>T
ENST00000304895.8:c.1066-5C>T	ENSP00000302728.4:n.1066-5C>T
ENST00000421103.5:c.628-5C>T	ENSP00000391390.1:n.628-5C>T
ENST00000430730.5:c.*333-5C>T	ENSP00000411859.1:n.*333-5C>T
ENST00000447929.5:c.*446-5C>T	ENSP00000411262.1:n.*446-5C>T
ENST00000462371.1:n.139C>T
ENST00000465785.5:n.299-5C>T
ENST00000466883.5:n.1452C>T
ENST00000475316.5:n.304-5C>T
ENST00000479038.1:n.189-5C>T
ENST00000489482.1:n.298C>T
XM_005250297.3:c.913-5C>T	XP_005250354.1:n.913-5C>T
XM_005250297.4:c.913-5C>T	XP_005250354.1:n.913-5C>T
XM_011516113.1:c.565-5C>T	XP_011514415.1:n.565-5C>T
XM_011516114.1:c.394-5C>T	XP_011514416.1:n.394-5C>T
XM_011516114.2:c.394-5C>T	XP_011514416.1:n.394-5C>T
XM_017012091.1:c.412-5C>T	XP_016867580.1:n.412-5C>T
XM_017012092.1:c.343-5C>T	XP_016867581.1:n.343-5C>T
XM_017012093.2:c.241-5C>T	XP_016867582.1:n.241-5C>T
XR_001744658.2:n.958-5C>T
XR_001744659.2:n.1111-5C>T
XR_001744660.2:n.958-5C>T
XR_001744661.2:n.958-5C>T
XR_927461.1:n.1192-5C>T
XR_927461.3:n.1111-5C>T