Canonical Allele Identifier: CA4276347

Gene: GUSB

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65974530G>A , CM000669.2:g.65974530G>A	GRCh38
NC_000007.13:g.65439517G>A , CM000669.1:g.65439517G>A	GRCh37
NC_000007.12:g.65076952G>A	NCBI36
NG_016197.1:g.12785C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1240C>T MANE Select	ENSP00000302728.4:p.Leu414=
ENST00000304895.8:c.1240C>T	ENSP00000302728.4:p.Leu414=
ENST00000421103.5:c.802C>T	ENSP00000391390.1:p.Leu268=
ENST00000430730.5:c.*507C>T	ENSP00000411859.1:n.*507C>T
ENST00000447929.5:c.*620C>T	ENSP00000411262.1:n.*620C>T
ENST00000462371.1:n.318C>T
ENST00000465785.5:n.473C>T
ENST00000466883.5:n.1631C>T
ENST00000475316.5:n.478C>T
ENST00000479038.1:n.363C>T
ENST00000489482.1:n.477C>T
NM_000181.3:c.1240C>T	NP_000172.2:p.Leu414=
NM_001284290.1:c.802C>T	NP_001271219.1:p.Leu268=
NM_001293104.1:c.670C>T	NP_001280033.1:p.Leu224=
NM_001293105.1:c.583C>T	NP_001280034.1:p.Leu195=
NR_120531.1:n.1371C>T
XM_005250297.3:c.1087C>T	XP_005250354.1:p.Leu363=
XM_011516113.1:c.739C>T	XP_011514415.1:p.Leu247=
XM_011516114.1:c.568C>T	XP_011514416.1:p.Leu190=
XR_927461.1:n.1366C>T
XM_005250297.4:c.1087C>T	XP_005250354.1:p.Leu363=
XM_011516114.2:c.568C>T	XP_011514416.1:p.Leu190=
XM_017012091.1:c.586C>T	XP_016867580.1:p.Leu196=
XM_017012092.1:c.517C>T	XP_016867581.1:p.Leu173=
XM_017012093.2:c.415C>T	XP_016867582.1:p.Leu139=
XR_001744658.2:n.1132C>T
XR_001744659.2:n.1285C>T
XR_001744660.2:n.1132C>T
XR_001744661.2:n.1132C>T
XR_927461.3:n.1285C>T
NM_000181.4:c.1240C>T MANE Select	NP_000172.2:p.Leu414=
NM_001284290.2:c.802C>T	NP_001271219.1:p.Leu268=
NM_001293104.2:c.670C>T	NP_001280033.1:p.Leu224=
NM_001293105.2:c.583C>T	NP_001280034.1:p.Leu195=
NR_120531.2:n.1270C>T