Canonical Allele Identifier: CA115762
Gene: GBE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2790
ClinVar RCV Id: RCV000002924 RCV001580444 RCV001851597 RCV002254901 RCV003415632
dbSNP Id: rs137852892
ExAC: 3:81695617 C / G
gnomAD v2: 3-81695617-C-G
gnomAD v3: 3-81646466-C-G
gnomAD v4: 3-81646466-C-G
MyVariant Identifiers: chr3:g.81695617C>G (hg19) chr3:g.81646466C>G (hg38)
PubMed: PMID:16528737
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81646466C>G , CM000665.2:g.81646466C>G GRCh38
NC_000003.11:g.81695617C>G , CM000665.1:g.81695617C>G GRCh37
NC_000003.10:g.81778307C>G NCBI36
NG_011810.1:g.120335G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000429644.7:c.708G>C MANE Select ENSP00000410833.2:p.Gln236His
ENST00000429644.6:c.708G>C ENSP00000410833.2:p.Gln236His
ENST00000489715.1:c.585G>C ENSP00000419638.1:p.Gln195His
ENST00000498468.1:n.258G>C
NM_000158.3:c.708G>C NP_000149.3:p.Gln236His
NM_000158.4:c.708G>C MANE Select NP_000149.4:p.Gln236His
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