Canonical Allele Identifier: CA455442437

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65432730T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65967743T>A , CM000669.2:g.65967743T>A	GRCh38
NC_000007.13:g.65432730T>A , CM000669.1:g.65432730T>A	GRCh37
NC_000007.12:g.65070165T>A	NCBI36
NG_016197.1:g.19572A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1641A>T MANE Select	ENSP00000302728.4:p.Ala547=
ENST00000304895.8:c.1641A>T	ENSP00000302728.4:p.Ala547=
ENST00000421103.5:c.1203A>T	ENSP00000391390.1:p.Ala401=
ENST00000430730.5:c.*908A>T	ENSP00000411859.1:n.*908A>T
ENST00000447929.5:c.*1021A>T	ENSP00000411262.1:n.*1021A>T
ENST00000461622.1:n.166A>T
ENST00000462371.1:n.679A>T
ENST00000466883.5:n.2031A>T
NM_000181.3:c.1641A>T	NP_000172.2:p.Ala547=
NM_001284290.1:c.1203A>T	NP_001271219.1:p.Ala401=
NM_001293104.1:c.1071A>T	NP_001280033.1:p.Ala357=
NM_001293105.1:c.984A>T	NP_001280034.1:p.Ala328=
NR_120531.1:n.1687A>T
XM_005250297.3:c.1488A>T	XP_005250354.1:p.Ala496=
XM_011516113.1:c.1140A>T	XP_011514415.1:p.Ala380=
XM_011516114.1:c.969A>T	XP_011514416.1:p.Ala323=
XR_927461.1:n.1727A>T
XM_005250297.4:c.1488A>T	XP_005250354.1:p.Ala496=
XM_011516114.2:c.969A>T	XP_011514416.1:p.Ala323=
XM_017012091.1:c.987A>T	XP_016867580.1:p.Ala329=
XM_017012092.1:c.918A>T	XP_016867581.1:p.Ala306=
XM_017012093.2:c.816A>T	XP_016867582.1:p.Ala272=
XR_001744658.2:n.1448A>T
XR_001744659.2:n.1561A>T
XR_001744660.2:n.1493A>T
XR_001744661.2:n.1408A>T
XR_927461.3:n.1646A>T
NM_000181.4:c.1641A>T MANE Select	NP_000172.2:p.Ala547=
NM_001284290.2:c.1203A>T	NP_001271219.1:p.Ala401=
NM_001293104.2:c.1071A>T	NP_001280033.1:p.Ala357=
NM_001293105.2:c.984A>T	NP_001280034.1:p.Ala328=
NR_120531.2:n.1586A>T