Canonical Allele Identifier: CA1141188413
Community Standard Title: NM_001033044.4(GLUL):c.970C= (p.Arg324=)
Gene: GLUL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.182384557G= , CM000663.2:g.182384557G= GRCh38
NC_000001.10:g.182353692G= , CM000663.1:g.182353692G= GRCh37
NC_000001.9:g.180620315G= NCBI36
NG_013347.2:g.12650C=

Transcript Alleles

HGVS Amino-acid Change
NM_001033044.4:c.970C= MANE Select NP_001028216.1:p.Arg324=
ENST00000331872.11:c.970C= MANE Select ENSP00000356537.6:p.Arg324=
NM_001033044.3:c.970C= NP_001028216.1:p.Arg324=
NM_001033056.3:c.970C= NP_001028228.1:p.Arg324=
NM_001033056.4:c.970C= NP_001028228.1:p.Arg324=
NM_002065.6:c.970C= NP_002056.2:p.Arg324=
NM_002065.7:c.970C= NP_002056.2:p.Arg324=
ENST00000311223.9:c.970C= ENSP00000307900.5:p.Arg324=
ENST00000331872.10:c.970C= ENSP00000356537.5:p.Arg324=
ENST00000339526.8:c.970C= ENSP00000344958.4:p.Arg324=
ENST00000417584.6:c.970C= ENSP00000398320.2:p.Arg324=
ENST00000461447.1:n.547C=
ENST00000463851.6:n.578C=
ENST00000491322.1:n.4469C=
ENST00000621524.1:c.*267C= ENSP00000481855.1:n.*267C=
ENST00000642379.1:c.1372C= ENSP00000494022.1:p.Arg458=
XM_006711278.1:c.970C= XP_006711341.1:p.Arg324=
XM_006711278.2:c.970C= XP_006711341.1:p.Arg324=