Canonical Allele Identifier: CA4276349
Community Standard Title: NM_000181.4(GUSB):c.1238C>T (p.Ala413Val)
Gene: GUSB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.65974532G>A , CM000669.2:g.65974532G>A GRCh38
NC_000007.13:g.65439519G>A , CM000669.1:g.65439519G>A GRCh37
NC_000007.12:g.65076954G>A NCBI36
NG_016197.1:g.12783C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000181.4:c.1238C>T MANE Select NP_000172.2:p.Ala413Val
ENST00000304895.9:c.1238C>T MANE Select ENSP00000302728.4:p.Ala413Val
NM_000181.3:c.1238C>T NP_000172.2:p.Ala413Val
NM_001284290.1:c.800C>T NP_001271219.1:p.Ala267Val
NM_001284290.2:c.800C>T NP_001271219.1:p.Ala267Val
NM_001293104.1:c.668C>T NP_001280033.1:p.Ala223Val
NM_001293104.2:c.668C>T NP_001280033.1:p.Ala223Val
NM_001293105.1:c.581C>T NP_001280034.1:p.Ala194Val
NM_001293105.2:c.581C>T NP_001280034.1:p.Ala194Val
NR_120531.1:n.1369C>T
NR_120531.2:n.1268C>T
ENST00000304895.8:c.1238C>T ENSP00000302728.4:p.Ala413Val
ENST00000421103.5:c.800C>T ENSP00000391390.1:p.Ala267Val
ENST00000430730.5:c.*505C>T ENSP00000411859.1:n.*505C>T
ENST00000447929.5:c.*618C>T ENSP00000411262.1:n.*618C>T
ENST00000462371.1:n.316C>T
ENST00000465785.5:n.471C>T
ENST00000466883.5:n.1629C>T
ENST00000475316.5:n.476C>T
ENST00000479038.1:n.361C>T
ENST00000489482.1:n.475C>T
XM_005250297.3:c.1085C>T XP_005250354.1:p.Ala362Val
XM_005250297.4:c.1085C>T XP_005250354.1:p.Ala362Val
XM_011516113.1:c.737C>T XP_011514415.1:p.Ala246Val
XM_011516114.1:c.566C>T XP_011514416.1:p.Ala189Val
XM_011516114.2:c.566C>T XP_011514416.1:p.Ala189Val
XM_017012091.1:c.584C>T XP_016867580.1:p.Ala195Val
XM_017012092.1:c.515C>T XP_016867581.1:p.Ala172Val
XM_017012093.2:c.413C>T XP_016867582.1:p.Ala138Val
XR_001744658.2:n.1130C>T
XR_001744659.2:n.1283C>T
XR_001744660.2:n.1130C>T
XR_001744661.2:n.1130C>T
XR_927461.1:n.1364C>T
XR_927461.3:n.1283C>T