Canonical Allele Identifier: CA1713855148
Gene: GUSB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.65961155G= , CM000669.2:g.65961155G= GRCh38
NC_000007.13:g.65426142G= , CM000669.1:g.65426142G= GRCh37
NC_000007.12:g.65063577G= NCBI36
NG_016197.1:g.26160C=
NG_051954.1:g.93057G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000304895.9:c.1790-92C= MANE Select ENSP00000302728.4:n.1790-92C=
ENST00000304895.8:c.1790-92C= ENSP00000302728.4:n.1790-92C=
ENST00000421103.5:c.1352-92C= ENSP00000391390.1:n.1352-92C=
ENST00000430730.5:c.*1057-92C= ENSP00000411859.1:n.*1057-92C=
ENST00000447929.5:c.*1170-92C= ENSP00000411262.1:n.*1170-92C=
ENST00000466883.5:n.2180-92C=
NM_000181.3:c.1790-92C= NP_000172.2:n.1790-92C=
NM_001284290.1:c.1352-92C= NP_001271219.1:n.1352-92C=
NM_001293104.1:c.1220-92C= NP_001280033.1:n.1220-92C=
NM_001293105.1:c.1133-92C= NP_001280034.1:n.1133-92C=
NR_120531.1:n.1836-92C=
XM_005250297.3:c.1637-92C= XP_005250354.1:n.1637-92C=
XM_011516113.1:c.1289-92C= XP_011514415.1:n.1289-92C=
XM_011516114.1:c.1118-92C= XP_011514416.1:n.1118-92C=
XM_005250297.4:c.1637-92C= XP_005250354.1:n.1637-92C=
XM_011516114.2:c.1118-92C= XP_011514416.1:n.1118-92C=
XM_017012091.1:c.1136-92C= XP_016867580.1:n.1136-92C=
XM_017012092.1:c.1067-92C= XP_016867581.1:n.1067-92C=
XM_017012093.2:c.965-92C= XP_016867582.1:n.965-92C=
XR_001744658.2:n.1597-92C=
XR_001744659.2:n.1710-92C=
XR_001744660.2:n.1642-92C=
XR_001744661.2:n.1557-92C=
XR_927461.3:n.1795-92C=
NM_000181.4:c.1790-92C= MANE Select NP_000172.2:n.1790-92C=
NM_001284290.2:c.1352-92C= NP_001271219.1:n.1352-92C=
NM_001293104.2:c.1220-92C= NP_001280033.1:n.1220-92C=
NM_001293105.2:c.1133-92C= NP_001280034.1:n.1133-92C=
NR_120531.2:n.1735-92C=