Canonical Allele Identifier: CA367636994

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65425903T>A (hg19) ; chr7:g.65960916T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960916T>A , CM000669.2:g.65960916T>A	GRCh38
NC_000007.13:g.65425903T>A , CM000669.1:g.65425903T>A	GRCh37
NC_000007.12:g.65063338T>A	NCBI36
NG_016197.1:g.26399A>T
NG_051954.1:g.92818T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1937A>T MANE Select	ENSP00000302728.4:p.Glu646Val
ENST00000304895.8:c.1937A>T	ENSP00000302728.4:p.Glu646Val
ENST00000421103.5:c.1499A>T	ENSP00000391390.1:p.Glu500Val
ENST00000430730.5:c.*1204A>T	ENSP00000411859.1:n.*1204A>T
ENST00000447929.5:c.*1317A>T	ENSP00000411262.1:n.*1317A>T
ENST00000466883.5:n.2327A>T
NM_000181.3:c.1937A>T	NP_000172.2:p.Glu646Val
NM_001284290.1:c.1499A>T	NP_001271219.1:p.Glu500Val
NM_001293104.1:c.1367A>T	NP_001280033.1:p.Glu456Val
NM_001293105.1:c.1280A>T	NP_001280034.1:p.Glu427Val
NR_120531.1:n.1983A>T
XM_005250297.3:c.1784A>T	XP_005250354.1:p.Glu595Val
XM_011516113.1:c.1436A>T	XP_011514415.1:p.Glu479Val
XM_011516114.1:c.1265A>T	XP_011514416.1:p.Glu422Val
XM_005250297.4:c.1784A>T	XP_005250354.1:p.Glu595Val
XM_011516114.2:c.1265A>T	XP_011514416.1:p.Glu422Val
XM_017012091.1:c.1283A>T	XP_016867580.1:p.Glu428Val
XM_017012092.1:c.1214A>T	XP_016867581.1:p.Glu405Val
XM_017012093.2:c.1112A>T	XP_016867582.1:p.Glu371Val
XR_001744658.2:n.1744A>T
XR_001744659.2:n.1857A>T
XR_001744660.2:n.1789A>T
XR_001744661.2:n.1704A>T
XR_927461.3:n.1942A>T
NM_000181.4:c.1937A>T MANE Select	NP_000172.2:p.Glu646Val
NM_001284290.2:c.1499A>T	NP_001271219.1:p.Glu500Val
NM_001293104.2:c.1367A>T	NP_001280033.1:p.Glu456Val
NM_001293105.2:c.1280A>T	NP_001280034.1:p.Glu427Val
NR_120531.2:n.1882A>T