Canonical Allele Identifier: CA367640165

Gene: GUSB

Linked Data

• gnomAD v4: 7-65967826-G-T
• MyVariant Identifiers: chr7:g.65432813G>T (hg19) ; chr7:g.65967826G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1558C>A MANE Select	ENSP00000302728.4:p.Gln520Lys
ENST00000304895.8:c.1558C>A	ENSP00000302728.4:p.Gln520Lys
ENST00000421103.5:c.1120C>A	ENSP00000391390.1:p.Gln374Lys
ENST00000430730.5:c.*825C>A	ENSP00000411859.1:n.*825C>A
ENST00000447929.5:c.*938C>A	ENSP00000411262.1:n.*938C>A
ENST00000461622.1:n.83C>A
ENST00000462371.1:n.596C>A
ENST00000466883.5:n.1948C>A
NM_000181.3:c.1558C>A	NP_000172.2:p.Gln520Lys
NM_001284290.1:c.1120C>A	NP_001271219.1:p.Gln374Lys
NM_001293104.1:c.988C>A	NP_001280033.1:p.Gln330Lys
NM_001293105.1:c.901C>A	NP_001280034.1:p.Gln301Lys
NR_120531.1:n.1604C>A
XM_005250297.3:c.1405C>A	XP_005250354.1:p.Gln469Lys
XM_011516113.1:c.1057C>A	XP_011514415.1:p.Gln353Lys
XM_011516114.1:c.886C>A	XP_011514416.1:p.Gln296Lys
XR_927461.1:n.1644C>A
XM_005250297.4:c.1405C>A	XP_005250354.1:p.Gln469Lys
XM_011516114.2:c.886C>A	XP_011514416.1:p.Gln296Lys
XM_017012091.1:c.904C>A	XP_016867580.1:p.Gln302Lys
XM_017012092.1:c.835C>A	XP_016867581.1:p.Gln279Lys
XM_017012093.2:c.733C>A	XP_016867582.1:p.Gln245Lys
XR_001744658.2:n.1365C>A
XR_001744659.2:n.1478C>A
XR_001744660.2:n.1410C>A
XR_001744661.2:n.1325C>A
XR_927461.3:n.1563C>A
NM_000181.4:c.1558C>A MANE Select	NP_000172.2:p.Gln520Lys
NM_001284290.2:c.1120C>A	NP_001271219.1:p.Gln374Lys
NM_001293104.2:c.988C>A	NP_001280033.1:p.Gln330Lys
NM_001293105.2:c.901C>A	NP_001280034.1:p.Gln301Lys
NR_120531.2:n.1503C>A