Canonical Allele Identifier: CA4276270
Community Standard Title: NM_000181.4(GUSB):c.1429C>T (p.Arg477Trp)
Gene: GUSB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.65970329G>A , CM000669.2:g.65970329G>A GRCh38
NC_000007.13:g.65435316G>A , CM000669.1:g.65435316G>A GRCh37
NC_000007.12:g.65072751G>A NCBI36
NG_016197.1:g.16986C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000181.4:c.1429C>T MANE Select NP_000172.2:p.Arg477Trp
ENST00000304895.9:c.1429C>T MANE Select ENSP00000302728.4:p.Arg477Trp
NM_000181.3:c.1429C>T NP_000172.2:p.Arg477Trp
NM_001284290.1:c.991C>T NP_001271219.1:p.Arg331Trp
NM_001284290.2:c.991C>T NP_001271219.1:p.Arg331Trp
NM_001293104.1:c.859C>T NP_001280033.1:p.Arg287Trp
NM_001293104.2:c.859C>T NP_001280033.1:p.Arg287Trp
NM_001293105.1:c.772C>T NP_001280034.1:p.Arg258Trp
NM_001293105.2:c.772C>T NP_001280034.1:p.Arg258Trp
NR_120531.1:n.1523-2422C>T
NR_120531.2:n.1422-2422C>T
ENST00000304895.8:c.1429C>T ENSP00000302728.4:p.Arg477Trp
ENST00000421103.5:c.991C>T ENSP00000391390.1:p.Arg331Trp
ENST00000430730.5:c.*696C>T ENSP00000411859.1:n.*696C>T
ENST00000447929.5:c.*809C>T ENSP00000411262.1:n.*809C>T
ENST00000462371.1:n.467C>T
ENST00000466883.5:n.1867-2422C>T
XM_005250297.3:c.1276C>T XP_005250354.1:p.Arg426Trp
XM_005250297.4:c.1276C>T XP_005250354.1:p.Arg426Trp
XM_011516113.1:c.928C>T XP_011514415.1:p.Arg310Trp
XM_011516114.1:c.757C>T XP_011514416.1:p.Arg253Trp
XM_011516114.2:c.757C>T XP_011514416.1:p.Arg253Trp
XM_017012091.1:c.775C>T XP_016867580.1:p.Arg259Trp
XM_017012092.1:c.706C>T XP_016867581.1:p.Arg236Trp
XM_017012093.2:c.604C>T XP_016867582.1:p.Arg202Trp
XR_001744658.2:n.1284-2422C>T
XR_001744659.2:n.1397-2422C>T
XR_001744660.2:n.1281C>T
XR_001744661.2:n.1244-2422C>T
XR_927461.1:n.1515C>T
XR_927461.3:n.1434C>T