Canonical Allele Identifier: CA455439186
Gene: GUSB HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.65425885C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.65960898C>T , CM000669.2:g.65960898C>T GRCh38
NC_000007.13:g.65425885C>T , CM000669.1:g.65425885C>T GRCh37
NC_000007.12:g.65063320C>T NCBI36
NG_016197.1:g.26417G>A
NG_051954.1:g.92800C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000304895.9:c.1955G>A MANE Select ENSP00000302728.4:p.Ter652=
ENST00000304895.8:c.1955G>A ENSP00000302728.4:p.Ter652=
ENST00000421103.5:c.1517G>A ENSP00000391390.1:p.Ter506=
ENST00000430730.5:c.*1222G>A ENSP00000411859.1:n.*1222G>A
ENST00000447929.5:c.*1335G>A ENSP00000411262.1:n.*1335G>A
ENST00000466883.5:n.2345G>A
NM_000181.3:c.1955G>A NP_000172.2:p.Ter652=
NM_001284290.1:c.1517G>A NP_001271219.1:p.Ter506=
NM_001293104.1:c.1385G>A NP_001280033.1:p.Ter462=
NM_001293105.1:c.1298G>A NP_001280034.1:p.Ter433=
NR_120531.1:n.2001G>A
XM_005250297.3:c.1802G>A XP_005250354.1:p.Ter601=
XM_011516113.1:c.1454G>A XP_011514415.1:p.Ter485=
XM_011516114.1:c.1283G>A XP_011514416.1:p.Ter428=
XM_005250297.4:c.1802G>A XP_005250354.1:p.Ter601=
XM_011516114.2:c.1283G>A XP_011514416.1:p.Ter428=
XM_017012091.1:c.1301G>A XP_016867580.1:p.Ter434=
XM_017012092.1:c.1232G>A XP_016867581.1:p.Ter411=
XM_017012093.2:c.1130G>A XP_016867582.1:p.Ter377=
XR_001744658.2:n.1762G>A
XR_001744659.2:n.1875G>A
XR_001744660.2:n.1807G>A
XR_001744661.2:n.1722G>A
XR_927461.3:n.1960G>A
NM_000181.4:c.1955G>A MANE Select NP_000172.2:p.Ter652=
NM_001284290.2:c.1517G>A NP_001271219.1:p.Ter506=
NM_001293104.2:c.1385G>A NP_001280033.1:p.Ter462=
NM_001293105.2:c.1298G>A NP_001280034.1:p.Ter433=
NR_120531.2:n.1900G>A