Canonical Allele Identifier: CA367644317
Community Standard Title: NM_000181.4(GUSB):c.1070G>T (p.Arg357Leu)
Gene: GUSB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.65974700C>A , CM000669.2:g.65974700C>A GRCh38
NC_000007.13:g.65439687C>A , CM000669.1:g.65439687C>A GRCh37
NC_000007.12:g.65077122C>A NCBI36
NG_016197.1:g.12615G>T

Transcript Alleles

HGVS Amino-acid Change
NM_000181.4:c.1070G>T MANE Select NP_000172.2:p.Arg357Leu
ENST00000304895.9:c.1070G>T MANE Select ENSP00000302728.4:p.Arg357Leu
NM_000181.3:c.1070G>T NP_000172.2:p.Arg357Leu
NM_001284290.1:c.632G>T NP_001271219.1:p.Arg211Leu
NM_001284290.2:c.632G>T NP_001271219.1:p.Arg211Leu
NM_001293104.1:c.500G>T NP_001280033.1:p.Arg167Leu
NM_001293104.2:c.500G>T NP_001280033.1:p.Arg167Leu
NM_001293105.1:c.413G>T NP_001280034.1:p.Arg138Leu
NM_001293105.2:c.413G>T NP_001280034.1:p.Arg138Leu
NR_120531.1:n.1201G>T
NR_120531.2:n.1100G>T
ENST00000304895.8:c.1070G>T ENSP00000302728.4:p.Arg357Leu
ENST00000421103.5:c.632G>T ENSP00000391390.1:p.Arg211Leu
ENST00000430730.5:c.*337G>T ENSP00000411859.1:n.*337G>T
ENST00000447929.5:c.*450G>T ENSP00000411262.1:n.*450G>T
ENST00000462371.1:n.148G>T
ENST00000465785.5:n.303G>T
ENST00000466883.5:n.1461G>T
ENST00000475316.5:n.308G>T
ENST00000479038.1:n.193G>T
ENST00000489482.1:n.307G>T
XM_005250297.3:c.917G>T XP_005250354.1:p.Arg306Leu
XM_005250297.4:c.917G>T XP_005250354.1:p.Arg306Leu
XM_011516113.1:c.569G>T XP_011514415.1:p.Arg190Leu
XM_011516114.1:c.398G>T XP_011514416.1:p.Arg133Leu
XM_011516114.2:c.398G>T XP_011514416.1:p.Arg133Leu
XM_017012091.1:c.416G>T XP_016867580.1:p.Arg139Leu
XM_017012092.1:c.347G>T XP_016867581.1:p.Arg116Leu
XM_017012093.2:c.245G>T XP_016867582.1:p.Arg82Leu
XR_001744658.2:n.962G>T
XR_001744659.2:n.1115G>T
XR_001744660.2:n.962G>T
XR_001744661.2:n.962G>T
XR_927461.1:n.1196G>T
XR_927461.3:n.1115G>T