Canonical Allele Identifier: CA126191
Gene: GLUL HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.182384557G>A
GRCh37 chr1:g.182353692G>A
Revel Score:
ENST00000331872 (MANE Select) 0.948
ENST00000311223 0.948
ENST00000417584 0.948
ENST00000339526 0.948
gnomAD v2:
1:182353692 G / A
gnomAD v4:
chr1-182384557-G-A
Joint Max Group AF 2.8e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
ClinVar RCV:
RCV000017463
ClinVar Variation:
16083
dbSNP:
80358214
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000331872.11:c.970C>T MANE Select ENSP00000356537.6:p.Arg324Cys
ENST00000642379.1:c.1372C>T ENSP00000494022.1:p.Arg458Cys
ENST00000311223.9:c.970C>T ENSP00000307900.5:p.Arg324Cys
ENST00000331872.10:c.970C>T ENSP00000356537.5:p.Arg324Cys
ENST00000339526.8:c.970C>T ENSP00000344958.4:p.Arg324Cys
ENST00000417584.6:c.970C>T ENSP00000398320.2:p.Arg324Cys
ENST00000461447.1:n.547C>T
ENST00000463851.6:n.578C>T
ENST00000491322.1:n.4469C>T
ENST00000621524.1:c.*267C>T ENSP00000481855.1:n.*267C>T
NM_001033044.3:c.970C>T NP_001028216.1:p.Arg324Cys
NM_001033056.3:c.970C>T NP_001028228.1:p.Arg324Cys
NM_002065.6:c.970C>T NP_002056.2:p.Arg324Cys
XM_006711278.1:c.970C>T XP_006711341.1:p.Arg324Cys
XM_006711278.2:c.970C>T XP_006711341.1:p.Arg324Cys
NM_001033044.4:c.970C>T MANE Select NP_001028216.1:p.Arg324Cys
NM_001033056.4:c.970C>T NP_001028228.1:p.Arg324Cys
NM_002065.7:c.970C>T NP_002056.2:p.Arg324Cys
Search 100 bp 5'
Search 100 bp 3'