Canonical Allele Identifier: CA367637693

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65426042T>A (hg19) ; chr7:g.65961055T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65961055T>A , CM000669.2:g.65961055T>A	GRCh38
NC_000007.13:g.65426042T>A , CM000669.1:g.65426042T>A	GRCh37
NC_000007.12:g.65063477T>A	NCBI36
NG_016197.1:g.26260A>T
NG_051954.1:g.92957T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1798A>T MANE Select	ENSP00000302728.4:p.Arg600Ter
ENST00000304895.8:c.1798A>T	ENSP00000302728.4:p.Arg600Ter
ENST00000421103.5:c.1360A>T	ENSP00000391390.1:p.Arg454Ter
ENST00000430730.5:c.*1065A>T	ENSP00000411859.1:n.*1065A>T
ENST00000447929.5:c.*1178A>T	ENSP00000411262.1:n.*1178A>T
ENST00000466883.5:n.2188A>T
NM_000181.3:c.1798A>T	NP_000172.2:p.Arg600Ter
NM_001284290.1:c.1360A>T	NP_001271219.1:p.Arg454Ter
NM_001293104.1:c.1228A>T	NP_001280033.1:p.Arg410Ter
NM_001293105.1:c.1141A>T	NP_001280034.1:p.Arg381Ter
NR_120531.1:n.1844A>T
XM_005250297.3:c.1645A>T	XP_005250354.1:p.Arg549Ter
XM_011516113.1:c.1297A>T	XP_011514415.1:p.Arg433Ter
XM_011516114.1:c.1126A>T	XP_011514416.1:p.Arg376Ter
XM_005250297.4:c.1645A>T	XP_005250354.1:p.Arg549Ter
XM_011516114.2:c.1126A>T	XP_011514416.1:p.Arg376Ter
XM_017012091.1:c.1144A>T	XP_016867580.1:p.Arg382Ter
XM_017012092.1:c.1075A>T	XP_016867581.1:p.Arg359Ter
XM_017012093.2:c.973A>T	XP_016867582.1:p.Arg325Ter
XR_001744658.2:n.1605A>T
XR_001744659.2:n.1718A>T
XR_001744660.2:n.1650A>T
XR_001744661.2:n.1565A>T
XR_927461.3:n.1803A>T
NM_000181.4:c.1798A>T MANE Select	NP_000172.2:p.Arg600Ter
NM_001284290.2:c.1360A>T	NP_001271219.1:p.Arg454Ter
NM_001293104.2:c.1228A>T	NP_001280033.1:p.Arg410Ter
NM_001293105.2:c.1141A>T	NP_001280034.1:p.Arg381Ter
NR_120531.2:n.1743A>T