Canonical Allele Identifier: CA455442468

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65432802G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65967815G>A , CM000669.2:g.65967815G>A	GRCh38
NC_000007.13:g.65432802G>A , CM000669.1:g.65432802G>A	GRCh37
NC_000007.12:g.65070237G>A	NCBI36
NG_016197.1:g.19500C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000304895.9:c.1569C>T MANE Select	ENSP00000302728.4:p.Thr523=
ENST00000304895.8:c.1569C>T	ENSP00000302728.4:p.Thr523=
ENST00000421103.5:c.1131C>T	ENSP00000391390.1:p.Thr377=
ENST00000430730.5:c.*836C>T	ENSP00000411859.1:n.*836C>T
ENST00000447929.5:c.*949C>T	ENSP00000411262.1:n.*949C>T
ENST00000461622.1:n.94C>T
ENST00000462371.1:n.607C>T
ENST00000466883.5:n.1959C>T
NM_000181.3:c.1569C>T	NP_000172.2:p.Thr523=
NM_001284290.1:c.1131C>T	NP_001271219.1:p.Thr377=
NM_001293104.1:c.999C>T	NP_001280033.1:p.Thr333=
NM_001293105.1:c.912C>T	NP_001280034.1:p.Thr304=
NR_120531.1:n.1615C>T
XM_005250297.3:c.1416C>T	XP_005250354.1:p.Thr472=
XM_011516113.1:c.1068C>T	XP_011514415.1:p.Thr356=
XM_011516114.1:c.897C>T	XP_011514416.1:p.Thr299=
XR_927461.1:n.1655C>T
XM_005250297.4:c.1416C>T	XP_005250354.1:p.Thr472=
XM_011516114.2:c.897C>T	XP_011514416.1:p.Thr299=
XM_017012091.1:c.915C>T	XP_016867580.1:p.Thr305=
XM_017012092.1:c.846C>T	XP_016867581.1:p.Thr282=
XM_017012093.2:c.744C>T	XP_016867582.1:p.Thr248=
XR_001744658.2:n.1376C>T
XR_001744659.2:n.1489C>T
XR_001744660.2:n.1421C>T
XR_001744661.2:n.1336C>T
XR_927461.3:n.1574C>T
NM_000181.4:c.1569C>T MANE Select	NP_000172.2:p.Thr523=
NM_001284290.2:c.1131C>T	NP_001271219.1:p.Thr377=
NM_001293104.2:c.999C>T	NP_001280033.1:p.Thr333=
NM_001293105.2:c.912C>T	NP_001280034.1:p.Thr304=
NR_120531.2:n.1514C>T