Canonical Allele Identifier: CA10608438

Gene: GLUL

Linked Data

• ClinVar Variation Id: 293905
• ClinVar RCV Id: RCV000335558
• dbSNP Id: rs148906736
• gnomAD v2: 1-182351768-G-C
• gnomAD v3: 1-182382633-G-C
• gnomAD v4: 1-182382633-G-C
• MyVariant Identifiers: chr1:g.182351768G>C (hg19) ; chr1:g.182382633G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.182382633G>C , CM000663.2:g.182382633G>C	GRCh38
NC_000001.10:g.182351768G>C , CM000663.1:g.182351768G>C	GRCh37
NC_000001.9:g.180618391G>C	NCBI36
NG_013347.2:g.14574C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331872.11:c.*1772C>G MANE Select	ENSP00000356537.6:n.*1772C>G
ENST00000642379.1:c.*1772C>G	ENSP00000494022.1:n.*1772C>G
ENST00000311223.9:c.*1772C>G	ENSP00000307900.5:n.*1772C>G
ENST00000331872.10:c.*1772C>G	ENSP00000356537.5:n.*1772C>G
ENST00000417584.6:c.*1772C>G	ENSP00000398320.2:n.*1772C>G
NM_001033044.3:c.*1772C>G	NP_001028216.1:n.*1772C>G
NM_001033056.3:c.*1772C>G	NP_001028228.1:n.*1772C>G
NM_002065.6:c.*1772C>G	NP_002056.2:n.*1772C>G
NM_001033044.4:c.*1772C>G MANE Select	NP_001028216.1:n.*1772C>G
NM_001033056.4:c.*1772C>G	NP_001028228.1:n.*1772C>G
NM_002065.7:c.*1772C>G	NP_002056.2:n.*1772C>G