Canonical Allele Identifier: CA455439565

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65425940T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960953T>G , CM000669.2:g.65960953T>G	GRCh38
NC_000007.13:g.65425940T>G , CM000669.1:g.65425940T>G	GRCh37
NC_000007.12:g.65063375T>G	NCBI36
NG_016197.1:g.26362A>C
NG_051954.1:g.92855T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1900A>C MANE Select	ENSP00000302728.4:p.Arg634=
ENST00000304895.8:c.1900A>C	ENSP00000302728.4:p.Arg634=
ENST00000421103.5:c.1462A>C	ENSP00000391390.1:p.Arg488=
ENST00000430730.5:c.*1167A>C	ENSP00000411859.1:n.*1167A>C
ENST00000447929.5:c.*1280A>C	ENSP00000411262.1:n.*1280A>C
ENST00000466883.5:n.2290A>C
NM_000181.3:c.1900A>C	NP_000172.2:p.Arg634=
NM_001284290.1:c.1462A>C	NP_001271219.1:p.Arg488=
NM_001293104.1:c.1330A>C	NP_001280033.1:p.Arg444=
NM_001293105.1:c.1243A>C	NP_001280034.1:p.Arg415=
NR_120531.1:n.1946A>C
XM_005250297.3:c.1747A>C	XP_005250354.1:p.Arg583=
XM_011516113.1:c.1399A>C	XP_011514415.1:p.Arg467=
XM_011516114.1:c.1228A>C	XP_011514416.1:p.Arg410=
XM_005250297.4:c.1747A>C	XP_005250354.1:p.Arg583=
XM_011516114.2:c.1228A>C	XP_011514416.1:p.Arg410=
XM_017012091.1:c.1246A>C	XP_016867580.1:p.Arg416=
XM_017012092.1:c.1177A>C	XP_016867581.1:p.Arg393=
XM_017012093.2:c.1075A>C	XP_016867582.1:p.Arg359=
XR_001744658.2:n.1707A>C
XR_001744659.2:n.1820A>C
XR_001744660.2:n.1752A>C
XR_001744661.2:n.1667A>C
XR_927461.3:n.1905A>C
NM_000181.4:c.1900A>C MANE Select	NP_000172.2:p.Arg634=
NM_001284290.2:c.1462A>C	NP_001271219.1:p.Arg488=
NM_001293104.2:c.1330A>C	NP_001280033.1:p.Arg444=
NM_001293105.2:c.1243A>C	NP_001280034.1:p.Arg415=
NR_120531.2:n.1845A>C