Canonical Allele Identifier: CA911023955
Gene: GBE1 HGNC NCBI

Linked Data

dbSNP Id: rs1438820534
gnomAD v4: 3-81649117-G-C
MyVariant Identifiers: chr3:g.81698268G>C (hg19) chr3:g.81649117G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81649117G>C , CM000665.2:g.81649117G>C GRCh38
NC_000003.11:g.81698268G>C , CM000665.1:g.81698268G>C GRCh37
NC_000003.10:g.81780958G>C NCBI36
NG_011810.1:g.117684C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.556-126C>G MANE Select ENSP00000410833.2:n.556-126C>G
ENST00000429644.6:c.556-126C>G ENSP00000410833.2:n.556-126C>G
ENST00000486920.1:n.552-126C>G
ENST00000489715.1:c.433-126C>G ENSP00000419638.1:n.433-126C>G
ENST00000498468.1:n.84-126C>G
NM_000158.3:c.556-126C>G NP_000149.3:n.556-126C>G
NM_000158.4:c.556-126C>G MANE Select NP_000149.4:n.556-126C>G
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