Canonical Allele Identifier: CA455442945

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65432892A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65967905A>T , CM000669.2:g.65967905A>T	GRCh38
NC_000007.13:g.65432892A>T , CM000669.1:g.65432892A>T	GRCh37
NC_000007.12:g.65070327A>T	NCBI36
NG_016197.1:g.19410T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1479T>A MANE Select	ENSP00000302728.4:p.Ala493=
ENST00000304895.8:c.1479T>A	ENSP00000302728.4:p.Ala493=
ENST00000421103.5:c.1041T>A	ENSP00000391390.1:p.Ala347=
ENST00000430730.5:c.*746T>A	ENSP00000411859.1:n.*746T>A
ENST00000447929.5:c.*859T>A	ENSP00000411262.1:n.*859T>A
ENST00000461622.1:n.4T>A
ENST00000462371.1:n.517T>A
ENST00000466883.5:n.1869T>A
NM_000181.3:c.1479T>A	NP_000172.2:p.Ala493=
NM_001284290.1:c.1041T>A	NP_001271219.1:p.Ala347=
NM_001293104.1:c.909T>A	NP_001280033.1:p.Ala303=
NM_001293105.1:c.822T>A	NP_001280034.1:p.Ala274=
NR_120531.1:n.1525T>A
XM_005250297.3:c.1326T>A	XP_005250354.1:p.Ala442=
XM_011516113.1:c.978T>A	XP_011514415.1:p.Ala326=
XM_011516114.1:c.807T>A	XP_011514416.1:p.Ala269=
XR_927461.1:n.1565T>A
XM_005250297.4:c.1326T>A	XP_005250354.1:p.Ala442=
XM_011516114.2:c.807T>A	XP_011514416.1:p.Ala269=
XM_017012091.1:c.825T>A	XP_016867580.1:p.Ala275=
XM_017012092.1:c.756T>A	XP_016867581.1:p.Ala252=
XM_017012093.2:c.654T>A	XP_016867582.1:p.Ala218=
XR_001744658.2:n.1286T>A
XR_001744659.2:n.1399T>A
XR_001744660.2:n.1331T>A
XR_001744661.2:n.1246T>A
XR_927461.3:n.1484T>A
NM_000181.4:c.1479T>A MANE Select	NP_000172.2:p.Ala493=
NM_001284290.2:c.1041T>A	NP_001271219.1:p.Ala347=
NM_001293104.2:c.909T>A	NP_001280033.1:p.Ala303=
NM_001293105.2:c.822T>A	NP_001280034.1:p.Ala274=
NR_120531.2:n.1424T>A