Canonical Allele Identifier: CA1277107

Gene: GLUL

Linked Data

• ClinVar Variation Id: 293945
• ClinVar RCV Id: RCV000345806 ; RCV001312112 ; RCV003930210
• dbSNP Id: rs140378060
• ExAC: 1:182354890 C / T
• gnomAD v2: 1-182354890-C-T
• gnomAD v3: 1-182385755-C-T
• gnomAD v4: 1-182385755-C-T
• MyVariant Identifiers: chr1:g.182354890C>T (hg19) ; chr1:g.182385755C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.182385755C>T , CM000663.2:g.182385755C>T	GRCh38
NC_000001.10:g.182354890C>T , CM000663.1:g.182354890C>T	GRCh37
NC_000001.9:g.180621513C>T	NCBI36
NG_013347.2:g.11452G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331872.11:c.603+5G>A MANE Select	ENSP00000356537.6:n.603+5G>A
ENST00000642379.1:c.1005+5G>A	ENSP00000494022.1:n.1005+5G>A
ENST00000311223.9:c.603+5G>A	ENSP00000307900.5:n.603+5G>A
ENST00000331872.10:c.603+5G>A	ENSP00000356537.5:n.603+5G>A
ENST00000339526.8:c.603+5G>A	ENSP00000344958.4:n.603+5G>A
ENST00000417584.6:c.603+5G>A	ENSP00000398320.2:n.603+5G>A
ENST00000461447.1:n.180+5G>A
ENST00000463851.6:n.211+5G>A
ENST00000484996.5:n.1215+5G>A
ENST00000489818.5:n.627G>A
ENST00000491322.1:n.3271G>A
ENST00000621524.1:c.602+5G>A	ENSP00000481855.1:n.602+5G>A
NM_001033044.3:c.603+5G>A	NP_001028216.1:n.603+5G>A
NM_001033056.3:c.603+5G>A	NP_001028228.1:n.603+5G>A
NM_002065.6:c.603+5G>A	NP_002056.2:n.603+5G>A
XM_006711278.1:c.603+5G>A	XP_006711341.1:n.603+5G>A
XM_006711278.2:c.603+5G>A	XP_006711341.1:n.603+5G>A
NM_001033044.4:c.603+5G>A MANE Select	NP_001028216.1:n.603+5G>A
NM_001033056.4:c.603+5G>A	NP_001028228.1:n.603+5G>A
NM_002065.7:c.603+5G>A	NP_002056.2:n.603+5G>A