Canonical Allele Identifier: CA78292197
Gene: GBE1 HGNC NCBI

Linked Data

dbSNP Id: rs969404441
gnomAD v4: 3-81646602-C-A
MyVariant Identifiers: chr3:g.81695753C>A (hg19) chr3:g.81646602C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81646602C>A , CM000665.2:g.81646602C>A GRCh38
NC_000003.11:g.81695753C>A , CM000665.1:g.81695753C>A GRCh37
NC_000003.10:g.81778443C>A NCBI36
NG_011810.1:g.120199G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.692-120G>T MANE Select ENSP00000410833.2:n.692-120G>T
ENST00000429644.6:c.692-120G>T ENSP00000410833.2:n.692-120G>T
ENST00000489715.1:c.569-120G>T ENSP00000419638.1:n.569-120G>T
ENST00000498468.1:n.220-98G>T
NM_000158.3:c.692-120G>T NP_000149.3:n.692-120G>T
NM_000158.4:c.692-120G>T MANE Select NP_000149.4:n.692-120G>T
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