Canonical Allele Identifier: CA1713884329
Gene: GUSB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.65974257C= , CM000669.2:g.65974257C= GRCh38
NC_000007.13:g.65439244C= , CM000669.1:g.65439244C= GRCh37
NC_000007.12:g.65076679C= NCBI36
NG_016197.1:g.13058G=

Transcript Alleles

HGVS Amino-acid change
ENST00000304895.9:c.1391+38G= MANE Select ENSP00000302728.4:n.1391+38G=
ENST00000304895.8:c.1391+38G= ENSP00000302728.4:n.1391+38G=
ENST00000421103.5:c.953+38G= ENSP00000391390.1:n.953+38G=
ENST00000430730.5:c.*658+38G= ENSP00000411859.1:n.*658+38G=
ENST00000447929.5:c.*771+38G= ENSP00000411262.1:n.*771+38G=
ENST00000462371.1:n.429+38G=
ENST00000466883.5:n.1866+38G=
NM_000181.3:c.1391+38G= NP_000172.2:n.1391+38G=
NM_001284290.1:c.953+38G= NP_001271219.1:n.953+38G=
NM_001293104.1:c.821+38G= NP_001280033.1:n.821+38G=
NM_001293105.1:c.734+38G= NP_001280034.1:n.734+38G=
NR_120531.1:n.1522+38G=
XM_005250297.3:c.1238+38G= XP_005250354.1:n.1238+38G=
XM_011516113.1:c.890+38G= XP_011514415.1:n.890+38G=
XM_011516114.1:c.719+38G= XP_011514416.1:n.719+38G=
XR_927461.1:n.1477+38G=
XM_005250297.4:c.1238+38G= XP_005250354.1:n.1238+38G=
XM_011516114.2:c.719+38G= XP_011514416.1:n.719+38G=
XM_017012091.1:c.737+38G= XP_016867580.1:n.737+38G=
XM_017012092.1:c.668+38G= XP_016867581.1:n.668+38G=
XM_017012093.2:c.566+38G= XP_016867582.1:n.566+38G=
XR_001744658.2:n.1283+38G=
XR_001744659.2:n.1396+38G=
XR_001744660.2:n.1243+38G=
XR_001744661.2:n.1243+38G=
XR_927461.3:n.1396+38G=
NM_000181.4:c.1391+38G= MANE Select NP_000172.2:n.1391+38G=
NM_001284290.2:c.953+38G= NP_001271219.1:n.953+38G=
NM_001293104.2:c.821+38G= NP_001280033.1:n.821+38G=
NM_001293105.2:c.734+38G= NP_001280034.1:n.734+38G=
NR_120531.2:n.1421+38G=