Canonical Allele Identifier: CA1713865020
Gene: GUSB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.65967928C= , CM000669.2:g.65967928C= GRCh38
NC_000007.13:g.65432915C= , CM000669.1:g.65432915C= GRCh37
NC_000007.12:g.65070350C= NCBI36
NG_016197.1:g.19387G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000304895.9:c.1477-21G= MANE Select ENSP00000302728.4:n.1477-21G=
ENST00000304895.8:c.1477-21G= ENSP00000302728.4:n.1477-21G=
ENST00000421103.5:c.1039-21G= ENSP00000391390.1:n.1039-21G=
ENST00000430730.5:c.*744-21G= ENSP00000411859.1:n.*744-21G=
ENST00000447929.5:c.*857-21G= ENSP00000411262.1:n.*857-21G=
ENST00000462371.1:n.515-21G=
ENST00000466883.5:n.1867-21G=
NM_000181.3:c.1477-21G= NP_000172.2:n.1477-21G=
NM_001284290.1:c.1039-21G= NP_001271219.1:n.1039-21G=
NM_001293104.1:c.907-21G= NP_001280033.1:n.907-21G=
NM_001293105.1:c.820-21G= NP_001280034.1:n.820-21G=
NR_120531.1:n.1523-21G=
XM_005250297.3:c.1324-21G= XP_005250354.1:n.1324-21G=
XM_011516113.1:c.976-21G= XP_011514415.1:n.976-21G=
XM_011516114.1:c.805-21G= XP_011514416.1:n.805-21G=
XR_927461.1:n.1563-21G=
XM_005250297.4:c.1324-21G= XP_005250354.1:n.1324-21G=
XM_011516114.2:c.805-21G= XP_011514416.1:n.805-21G=
XM_017012091.1:c.823-21G= XP_016867580.1:n.823-21G=
XM_017012092.1:c.754-21G= XP_016867581.1:n.754-21G=
XM_017012093.2:c.652-21G= XP_016867582.1:n.652-21G=
XR_001744658.2:n.1284-21G=
XR_001744659.2:n.1397-21G=
XR_001744660.2:n.1329-21G=
XR_001744661.2:n.1244-21G=
XR_927461.3:n.1482-21G=
NM_000181.4:c.1477-21G= MANE Select NP_000172.2:n.1477-21G=
NM_001284290.2:c.1039-21G= NP_001271219.1:n.1039-21G=
NM_001293104.2:c.907-21G= NP_001280033.1:n.907-21G=
NM_001293105.2:c.820-21G= NP_001280034.1:n.820-21G=
NR_120531.2:n.1422-21G=