Canonical Allele Identifier: CA126193
Gene: GLUL HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.182384506G>A , CM000663.2:g.182384506G>A GRCh38
NC_000001.10:g.182353641G>A , CM000663.1:g.182353641G>A GRCh37
NC_000001.9:g.180620264G>A NCBI36
NG_013347.2:g.12701C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000331872.11:c.1021C>T MANE Select ENSP00000356537.6:p.Arg341Cys
ENST00000642379.1:c.1423C>T ENSP00000494022.1:p.Arg475Cys
ENST00000311223.9:c.1021C>T ENSP00000307900.5:p.Arg341Cys
ENST00000331872.10:c.1021C>T ENSP00000356537.5:p.Arg341Cys
ENST00000339526.8:c.1021C>T ENSP00000344958.4:p.Arg341Cys
ENST00000417584.6:c.1021C>T ENSP00000398320.2:p.Arg341Cys
ENST00000461447.1:n.598C>T
ENST00000463851.6:n.629C>T
ENST00000491322.1:n.4520C>T
ENST00000621524.1:c.*318C>T ENSP00000481855.1:n.*318C>T
NM_001033044.3:c.1021C>T NP_001028216.1:p.Arg341Cys
NM_001033056.3:c.1021C>T NP_001028228.1:p.Arg341Cys
NM_002065.6:c.1021C>T NP_002056.2:p.Arg341Cys
XM_006711278.1:c.1021C>T XP_006711341.1:p.Arg341Cys
XM_006711278.2:c.1021C>T XP_006711341.1:p.Arg341Cys
NM_001033044.4:c.1021C>T MANE Select NP_001028216.1:p.Arg341Cys
NM_001033056.4:c.1021C>T NP_001028228.1:p.Arg341Cys
NM_002065.7:c.1021C>T NP_002056.2:p.Arg341Cys