Canonical Allele Identifier: CA367639804

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65432741C>G (hg19) ; chr7:g.65967754C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65967754C>G , CM000669.2:g.65967754C>G	GRCh38
NC_000007.13:g.65432741C>G , CM000669.1:g.65432741C>G	GRCh37
NC_000007.12:g.65070176C>G	NCBI36
NG_016197.1:g.19561G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1630G>C MANE Select	ENSP00000302728.4:p.Glu544Gln
ENST00000304895.8:c.1630G>C	ENSP00000302728.4:p.Glu544Gln
ENST00000421103.5:c.1192G>C	ENSP00000391390.1:p.Glu398Gln
ENST00000430730.5:c.*897G>C	ENSP00000411859.1:n.*897G>C
ENST00000447929.5:c.*1010G>C	ENSP00000411262.1:n.*1010G>C
ENST00000461622.1:n.155G>C
ENST00000462371.1:n.668G>C
ENST00000466883.5:n.2020G>C
NM_000181.3:c.1630G>C	NP_000172.2:p.Glu544Gln
NM_001284290.1:c.1192G>C	NP_001271219.1:p.Glu398Gln
NM_001293104.1:c.1060G>C	NP_001280033.1:p.Glu354Gln
NM_001293105.1:c.973G>C	NP_001280034.1:p.Glu325Gln
NR_120531.1:n.1676G>C
XM_005250297.3:c.1477G>C	XP_005250354.1:p.Glu493Gln
XM_011516113.1:c.1129G>C	XP_011514415.1:p.Glu377Gln
XM_011516114.1:c.958G>C	XP_011514416.1:p.Glu320Gln
XR_927461.1:n.1716G>C
XM_005250297.4:c.1477G>C	XP_005250354.1:p.Glu493Gln
XM_011516114.2:c.958G>C	XP_011514416.1:p.Glu320Gln
XM_017012091.1:c.976G>C	XP_016867580.1:p.Glu326Gln
XM_017012092.1:c.907G>C	XP_016867581.1:p.Glu303Gln
XM_017012093.2:c.805G>C	XP_016867582.1:p.Glu269Gln
XR_001744658.2:n.1437G>C
XR_001744659.2:n.1550G>C
XR_001744660.2:n.1482G>C
XR_001744661.2:n.1397G>C
XR_927461.3:n.1635G>C
NM_000181.4:c.1630G>C MANE Select	NP_000172.2:p.Glu544Gln
NM_001284290.2:c.1192G>C	NP_001271219.1:p.Glu398Gln
NM_001293104.2:c.1060G>C	NP_001280033.1:p.Glu354Gln
NM_001293105.2:c.973G>C	NP_001280034.1:p.Glu325Gln
NR_120531.2:n.1575G>C