Canonical Allele Identifier: CA367637286

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65425969T>C (hg19) ; chr7:g.65960982T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960982T>C , CM000669.2:g.65960982T>C	GRCh38
NC_000007.13:g.65425969T>C , CM000669.1:g.65425969T>C	GRCh37
NC_000007.12:g.65063404T>C	NCBI36
NG_016197.1:g.26333A>G
NG_051954.1:g.92884T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1871A>G MANE Select	ENSP00000302728.4:p.Glu624Gly
ENST00000304895.8:c.1871A>G	ENSP00000302728.4:p.Glu624Gly
ENST00000421103.5:c.1433A>G	ENSP00000391390.1:p.Glu478Gly
ENST00000430730.5:c.*1138A>G	ENSP00000411859.1:n.*1138A>G
ENST00000447929.5:c.*1251A>G	ENSP00000411262.1:n.*1251A>G
ENST00000466883.5:n.2261A>G
NM_000181.3:c.1871A>G	NP_000172.2:p.Glu624Gly
NM_001284290.1:c.1433A>G	NP_001271219.1:p.Glu478Gly
NM_001293104.1:c.1301A>G	NP_001280033.1:p.Glu434Gly
NM_001293105.1:c.1214A>G	NP_001280034.1:p.Glu405Gly
NR_120531.1:n.1917A>G
XM_005250297.3:c.1718A>G	XP_005250354.1:p.Glu573Gly
XM_011516113.1:c.1370A>G	XP_011514415.1:p.Glu457Gly
XM_011516114.1:c.1199A>G	XP_011514416.1:p.Glu400Gly
XM_005250297.4:c.1718A>G	XP_005250354.1:p.Glu573Gly
XM_011516114.2:c.1199A>G	XP_011514416.1:p.Glu400Gly
XM_017012091.1:c.1217A>G	XP_016867580.1:p.Glu406Gly
XM_017012092.1:c.1148A>G	XP_016867581.1:p.Glu383Gly
XM_017012093.2:c.1046A>G	XP_016867582.1:p.Glu349Gly
XR_001744658.2:n.1678A>G
XR_001744659.2:n.1791A>G
XR_001744660.2:n.1723A>G
XR_001744661.2:n.1638A>G
XR_927461.3:n.1876A>G
NM_000181.4:c.1871A>G MANE Select	NP_000172.2:p.Glu624Gly
NM_001284290.2:c.1433A>G	NP_001271219.1:p.Glu478Gly
NM_001293104.2:c.1301A>G	NP_001280033.1:p.Glu434Gly
NM_001293105.2:c.1214A>G	NP_001280034.1:p.Glu405Gly
NR_120531.2:n.1816A>G