Canonical Allele Identifier: CA367639859

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65432753C>G (hg19) ; chr7:g.65967766C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65967766C>G , CM000669.2:g.65967766C>G	GRCh38
NC_000007.13:g.65432753C>G , CM000669.1:g.65432753C>G	GRCh37
NC_000007.12:g.65070188C>G	NCBI36
NG_016197.1:g.19549G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1618G>C MANE Select	ENSP00000302728.4:p.Glu540Gln
ENST00000304895.8:c.1618G>C	ENSP00000302728.4:p.Glu540Gln
ENST00000421103.5:c.1180G>C	ENSP00000391390.1:p.Glu394Gln
ENST00000430730.5:c.*885G>C	ENSP00000411859.1:n.*885G>C
ENST00000447929.5:c.*998G>C	ENSP00000411262.1:n.*998G>C
ENST00000461622.1:n.143G>C
ENST00000462371.1:n.656G>C
ENST00000466883.5:n.2008G>C
NM_000181.3:c.1618G>C	NP_000172.2:p.Glu540Gln
NM_001284290.1:c.1180G>C	NP_001271219.1:p.Glu394Gln
NM_001293104.1:c.1048G>C	NP_001280033.1:p.Glu350Gln
NM_001293105.1:c.961G>C	NP_001280034.1:p.Glu321Gln
NR_120531.1:n.1664G>C
XM_005250297.3:c.1465G>C	XP_005250354.1:p.Glu489Gln
XM_011516113.1:c.1117G>C	XP_011514415.1:p.Glu373Gln
XM_011516114.1:c.946G>C	XP_011514416.1:p.Glu316Gln
XR_927461.1:n.1704G>C
XM_005250297.4:c.1465G>C	XP_005250354.1:p.Glu489Gln
XM_011516114.2:c.946G>C	XP_011514416.1:p.Glu316Gln
XM_017012091.1:c.964G>C	XP_016867580.1:p.Glu322Gln
XM_017012092.1:c.895G>C	XP_016867581.1:p.Glu299Gln
XM_017012093.2:c.793G>C	XP_016867582.1:p.Glu265Gln
XR_001744658.2:n.1425G>C
XR_001744659.2:n.1538G>C
XR_001744660.2:n.1470G>C
XR_001744661.2:n.1385G>C
XR_927461.3:n.1623G>C
NM_000181.4:c.1618G>C MANE Select	NP_000172.2:p.Glu540Gln
NM_001284290.2:c.1180G>C	NP_001271219.1:p.Glu394Gln
NM_001293104.2:c.1048G>C	NP_001280033.1:p.Glu350Gln
NM_001293105.2:c.961G>C	NP_001280034.1:p.Glu321Gln
NR_120531.2:n.1563G>C