Canonical Allele Identifier: CA10608387

Gene: GLUL

Linked Data

• ClinVar Variation Id: 293963
• ClinVar RCV Id: RCV000389571
• dbSNP Id: rs886045620
• gnomAD v2: 1-182360856-G-A
• gnomAD v3: 1-182391721-G-A
• gnomAD v4: 1-182391721-G-A
• MyVariant Identifiers: chr1:g.182360856G>A (hg19) ; chr1:g.182391721G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.182391721G>A , CM000663.2:g.182391721G>A	GRCh38
NC_000001.10:g.182360856G>A , CM000663.1:g.182360856G>A	GRCh37
NC_000001.9:g.180627479G>A	NCBI36
NG_013347.2:g.5486C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331872.11:c.-56C>T MANE Select	ENSP00000356537.6:n.-56C>T
ENST00000311223.9:c.-412C>T	ENSP00000307900.5:n.-412C>T
ENST00000331872.10:c.-56C>T	ENSP00000356537.5:n.-56C>T
ENST00000339526.8:c.-1238C>T	ENSP00000344958.4:n.-1238C>T
ENST00000462444.1:n.54C>T
ENST00000463851.6:n.39C>T
ENST00000480604.5:n.39C>T
ENST00000484996.5:n.53C>T
ENST00000489818.5:n.70C>T
NM_001033044.3:c.-56C>T	NP_001028216.1:n.-56C>T
NM_002065.6:c.-412C>T	NP_002056.2:n.-412C>T
NM_001033044.4:c.-56C>T MANE Select	NP_001028216.1:n.-56C>T
NM_002065.7:c.-412C>T	NP_002056.2:n.-412C>T