Canonical Allele Identifier: CA10608871
Gene: GLUL HGNC NCBI

Linked Data

ClinVar Variation Id: 293965
ClinVar RCV Id: RCV000349990
dbSNP Id: rs112448103
gnomAD v2: 1-182360925-T-C
gnomAD v3: 1-182391790-T-C
gnomAD v4: 1-182391790-T-C
MyVariant Identifiers: chr1:g.182360925T>C (hg19) chr1:g.182391790T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.182391790T>C , CM000663.2:g.182391790T>C GRCh38
NC_000001.10:g.182360925T>C , CM000663.1:g.182360925T>C GRCh37
NC_000001.9:g.180627548T>C NCBI36
NG_013347.2:g.5417A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000331872.11:c.-125A>G MANE Select ENSP00000356537.6:n.-125A>G
ENST00000311223.9:c.-481A>G ENSP00000307900.5:n.-481A>G
ENST00000331872.10:c.-125A>G ENSP00000356537.5:n.-125A>G
ENST00000339526.8:c.-1307A>G ENSP00000344958.4:n.-1307A>G
ENST00000489818.5:n.1A>G
NM_001033044.3:c.-125A>G NP_001028216.1:n.-125A>G
NM_002065.6:c.-481A>G NP_002056.2:n.-481A>G
NM_001033044.4:c.-125A>G MANE Select NP_001028216.1:n.-125A>G
NM_002065.7:c.-481A>G NP_002056.2:n.-481A>G
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