Canonical Allele Identifier: CA367636943

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65425892A>T (hg19) ; chr7:g.65960905A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960905A>T , CM000669.2:g.65960905A>T	GRCh38
NC_000007.13:g.65425892A>T , CM000669.1:g.65425892A>T	GRCh37
NC_000007.12:g.65063327A>T	NCBI36
NG_016197.1:g.26410T>A
NG_051954.1:g.92807A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1948T>A MANE Select	ENSP00000302728.4:p.Phe650Ile
ENST00000304895.8:c.1948T>A	ENSP00000302728.4:p.Phe650Ile
ENST00000421103.5:c.1510T>A	ENSP00000391390.1:p.Phe504Ile
ENST00000430730.5:c.*1215T>A	ENSP00000411859.1:n.*1215T>A
ENST00000447929.5:c.*1328T>A	ENSP00000411262.1:n.*1328T>A
ENST00000466883.5:n.2338T>A
NM_000181.3:c.1948T>A	NP_000172.2:p.Phe650Ile
NM_001284290.1:c.1510T>A	NP_001271219.1:p.Phe504Ile
NM_001293104.1:c.1378T>A	NP_001280033.1:p.Phe460Ile
NM_001293105.1:c.1291T>A	NP_001280034.1:p.Phe431Ile
NR_120531.1:n.1994T>A
XM_005250297.3:c.1795T>A	XP_005250354.1:p.Phe599Ile
XM_011516113.1:c.1447T>A	XP_011514415.1:p.Phe483Ile
XM_011516114.1:c.1276T>A	XP_011514416.1:p.Phe426Ile
XM_005250297.4:c.1795T>A	XP_005250354.1:p.Phe599Ile
XM_011516114.2:c.1276T>A	XP_011514416.1:p.Phe426Ile
XM_017012091.1:c.1294T>A	XP_016867580.1:p.Phe432Ile
XM_017012092.1:c.1225T>A	XP_016867581.1:p.Phe409Ile
XM_017012093.2:c.1123T>A	XP_016867582.1:p.Phe375Ile
XR_001744658.2:n.1755T>A
XR_001744659.2:n.1868T>A
XR_001744660.2:n.1800T>A
XR_001744661.2:n.1715T>A
XR_927461.3:n.1953T>A
NM_000181.4:c.1948T>A MANE Select	NP_000172.2:p.Phe650Ile
NM_001284290.2:c.1510T>A	NP_001271219.1:p.Phe504Ile
NM_001293104.2:c.1378T>A	NP_001280033.1:p.Phe460Ile
NM_001293105.2:c.1291T>A	NP_001280034.1:p.Phe431Ile
NR_120531.2:n.1893T>A