Canonical Allele Identifier: CA367640161

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65432813G>A (hg19) ; chr7:g.65967826G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65967826G>A , CM000669.2:g.65967826G>A	GRCh38
NC_000007.13:g.65432813G>A , CM000669.1:g.65432813G>A	GRCh37
NC_000007.12:g.65070248G>A	NCBI36
NG_016197.1:g.19489C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1558C>T MANE Select	ENSP00000302728.4:p.Gln520Ter
ENST00000304895.8:c.1558C>T	ENSP00000302728.4:p.Gln520Ter
ENST00000421103.5:c.1120C>T	ENSP00000391390.1:p.Gln374Ter
ENST00000430730.5:c.*825C>T	ENSP00000411859.1:n.*825C>T
ENST00000447929.5:c.*938C>T	ENSP00000411262.1:n.*938C>T
ENST00000461622.1:n.83C>T
ENST00000462371.1:n.596C>T
ENST00000466883.5:n.1948C>T
NM_000181.3:c.1558C>T	NP_000172.2:p.Gln520Ter
NM_001284290.1:c.1120C>T	NP_001271219.1:p.Gln374Ter
NM_001293104.1:c.988C>T	NP_001280033.1:p.Gln330Ter
NM_001293105.1:c.901C>T	NP_001280034.1:p.Gln301Ter
NR_120531.1:n.1604C>T
XM_005250297.3:c.1405C>T	XP_005250354.1:p.Gln469Ter
XM_011516113.1:c.1057C>T	XP_011514415.1:p.Gln353Ter
XM_011516114.1:c.886C>T	XP_011514416.1:p.Gln296Ter
XR_927461.1:n.1644C>T
XM_005250297.4:c.1405C>T	XP_005250354.1:p.Gln469Ter
XM_011516114.2:c.886C>T	XP_011514416.1:p.Gln296Ter
XM_017012091.1:c.904C>T	XP_016867580.1:p.Gln302Ter
XM_017012092.1:c.835C>T	XP_016867581.1:p.Gln279Ter
XM_017012093.2:c.733C>T	XP_016867582.1:p.Gln245Ter
XR_001744658.2:n.1365C>T
XR_001744659.2:n.1478C>T
XR_001744660.2:n.1410C>T
XR_001744661.2:n.1325C>T
XR_927461.3:n.1563C>T
NM_000181.4:c.1558C>T MANE Select	NP_000172.2:p.Gln520Ter
NM_001284290.2:c.1120C>T	NP_001271219.1:p.Gln374Ter
NM_001293104.2:c.988C>T	NP_001280033.1:p.Gln330Ter
NM_001293105.2:c.901C>T	NP_001280034.1:p.Gln301Ter
NR_120531.2:n.1503C>T