Canonical Allele Identifier: CA367636988

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65425902T>A (hg19) ; chr7:g.65960915T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960915T>A , CM000669.2:g.65960915T>A	GRCh38
NC_000007.13:g.65425902T>A , CM000669.1:g.65425902T>A	GRCh37
NC_000007.12:g.65063337T>A	NCBI36
NG_016197.1:g.26400A>T
NG_051954.1:g.92817T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1938A>T MANE Select	ENSP00000302728.4:p.Glu646Asp
ENST00000304895.8:c.1938A>T	ENSP00000302728.4:p.Glu646Asp
ENST00000421103.5:c.1500A>T	ENSP00000391390.1:p.Glu500Asp
ENST00000430730.5:c.*1205A>T	ENSP00000411859.1:n.*1205A>T
ENST00000447929.5:c.*1318A>T	ENSP00000411262.1:n.*1318A>T
ENST00000466883.5:n.2328A>T
NM_000181.3:c.1938A>T	NP_000172.2:p.Glu646Asp
NM_001284290.1:c.1500A>T	NP_001271219.1:p.Glu500Asp
NM_001293104.1:c.1368A>T	NP_001280033.1:p.Glu456Asp
NM_001293105.1:c.1281A>T	NP_001280034.1:p.Glu427Asp
NR_120531.1:n.1984A>T
XM_005250297.3:c.1785A>T	XP_005250354.1:p.Glu595Asp
XM_011516113.1:c.1437A>T	XP_011514415.1:p.Glu479Asp
XM_011516114.1:c.1266A>T	XP_011514416.1:p.Glu422Asp
XM_005250297.4:c.1785A>T	XP_005250354.1:p.Glu595Asp
XM_011516114.2:c.1266A>T	XP_011514416.1:p.Glu422Asp
XM_017012091.1:c.1284A>T	XP_016867580.1:p.Glu428Asp
XM_017012092.1:c.1215A>T	XP_016867581.1:p.Glu405Asp
XM_017012093.2:c.1113A>T	XP_016867582.1:p.Glu371Asp
XR_001744658.2:n.1745A>T
XR_001744659.2:n.1858A>T
XR_001744660.2:n.1790A>T
XR_001744661.2:n.1705A>T
XR_927461.3:n.1943A>T
NM_000181.4:c.1938A>T MANE Select	NP_000172.2:p.Glu646Asp
NM_001284290.2:c.1500A>T	NP_001271219.1:p.Glu500Asp
NM_001293104.2:c.1368A>T	NP_001280033.1:p.Glu456Asp
NM_001293105.2:c.1281A>T	NP_001280034.1:p.Glu427Asp
NR_120531.2:n.1883A>T