Canonical Allele Identifier: CA367637177

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65425945T>A (hg19) ; chr7:g.65960958T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960958T>A , CM000669.2:g.65960958T>A	GRCh38
NC_000007.13:g.65425945T>A , CM000669.1:g.65425945T>A	GRCh37
NC_000007.12:g.65063380T>A	NCBI36
NG_016197.1:g.26357A>T
NG_051954.1:g.92860T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1895A>T MANE Select	ENSP00000302728.4:p.Glu632Val
ENST00000304895.8:c.1895A>T	ENSP00000302728.4:p.Glu632Val
ENST00000421103.5:c.1457A>T	ENSP00000391390.1:p.Glu486Val
ENST00000430730.5:c.*1162A>T	ENSP00000411859.1:n.*1162A>T
ENST00000447929.5:c.*1275A>T	ENSP00000411262.1:n.*1275A>T
ENST00000466883.5:n.2285A>T
NM_000181.3:c.1895A>T	NP_000172.2:p.Glu632Val
NM_001284290.1:c.1457A>T	NP_001271219.1:p.Glu486Val
NM_001293104.1:c.1325A>T	NP_001280033.1:p.Glu442Val
NM_001293105.1:c.1238A>T	NP_001280034.1:p.Glu413Val
NR_120531.1:n.1941A>T
XM_005250297.3:c.1742A>T	XP_005250354.1:p.Glu581Val
XM_011516113.1:c.1394A>T	XP_011514415.1:p.Glu465Val
XM_011516114.1:c.1223A>T	XP_011514416.1:p.Glu408Val
XM_005250297.4:c.1742A>T	XP_005250354.1:p.Glu581Val
XM_011516114.2:c.1223A>T	XP_011514416.1:p.Glu408Val
XM_017012091.1:c.1241A>T	XP_016867580.1:p.Glu414Val
XM_017012092.1:c.1172A>T	XP_016867581.1:p.Glu391Val
XM_017012093.2:c.1070A>T	XP_016867582.1:p.Glu357Val
XR_001744658.2:n.1702A>T
XR_001744659.2:n.1815A>T
XR_001744660.2:n.1747A>T
XR_001744661.2:n.1662A>T
XR_927461.3:n.1900A>T
NM_000181.4:c.1895A>T MANE Select	NP_000172.2:p.Glu632Val
NM_001284290.2:c.1457A>T	NP_001271219.1:p.Glu486Val
NM_001293104.2:c.1325A>T	NP_001280033.1:p.Glu442Val
NM_001293105.2:c.1238A>T	NP_001280034.1:p.Glu413Val
NR_120531.2:n.1840A>T