Canonical Allele Identifier: CA455439202

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65425887A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960900A>G , CM000669.2:g.65960900A>G	GRCh38
NC_000007.13:g.65425887A>G , CM000669.1:g.65425887A>G	GRCh37
NC_000007.12:g.65063322A>G	NCBI36
NG_016197.1:g.26415T>C
NG_051954.1:g.92802A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1953T>C MANE Select	ENSP00000302728.4:p.Thr651=
ENST00000304895.8:c.1953T>C	ENSP00000302728.4:p.Thr651=
ENST00000421103.5:c.1515T>C	ENSP00000391390.1:p.Thr505=
ENST00000430730.5:c.*1220T>C	ENSP00000411859.1:n.*1220T>C
ENST00000447929.5:c.*1333T>C	ENSP00000411262.1:n.*1333T>C
ENST00000466883.5:n.2343T>C
NM_000181.3:c.1953T>C	NP_000172.2:p.Thr651=
NM_001284290.1:c.1515T>C	NP_001271219.1:p.Thr505=
NM_001293104.1:c.1383T>C	NP_001280033.1:p.Thr461=
NM_001293105.1:c.1296T>C	NP_001280034.1:p.Thr432=
NR_120531.1:n.1999T>C
XM_005250297.3:c.1800T>C	XP_005250354.1:p.Thr600=
XM_011516113.1:c.1452T>C	XP_011514415.1:p.Thr484=
XM_011516114.1:c.1281T>C	XP_011514416.1:p.Thr427=
XM_005250297.4:c.1800T>C	XP_005250354.1:p.Thr600=
XM_011516114.2:c.1281T>C	XP_011514416.1:p.Thr427=
XM_017012091.1:c.1299T>C	XP_016867580.1:p.Thr433=
XM_017012092.1:c.1230T>C	XP_016867581.1:p.Thr410=
XM_017012093.2:c.1128T>C	XP_016867582.1:p.Thr376=
XR_001744658.2:n.1760T>C
XR_001744659.2:n.1873T>C
XR_001744660.2:n.1805T>C
XR_001744661.2:n.1720T>C
XR_927461.3:n.1958T>C
NM_000181.4:c.1953T>C MANE Select	NP_000172.2:p.Thr651=
NM_001284290.2:c.1515T>C	NP_001271219.1:p.Thr505=
NM_001293104.2:c.1383T>C	NP_001280033.1:p.Thr461=
NM_001293105.2:c.1296T>C	NP_001280034.1:p.Thr432=
NR_120531.2:n.1898T>C