Canonical Allele Identifier: CA78294824
Gene: GBE1 HGNC NCBI

Linked Data

dbSNP Id: rs746333505
gnomAD v4: 3-81670895-C-A
MyVariant Identifiers: chr3:g.81720046C>A (hg19) chr3:g.81670895C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81670895C>A , CM000665.2:g.81670895C>A GRCh38
NC_000003.11:g.81720046C>A , CM000665.1:g.81720046C>A GRCh37
NC_000003.10:g.81802736C>A NCBI36
NG_011810.1:g.95906G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.372G>T MANE Select ENSP00000410833.2:p.Leu124=
ENST00000429644.6:c.372G>T ENSP00000410833.2:p.Leu124=
ENST00000477426.1:n.88G>T
ENST00000489715.1:c.249G>T ENSP00000419638.1:p.Leu83=
NM_000158.3:c.372G>T NP_000149.3:p.Leu124=
NM_000158.4:c.372G>T MANE Select NP_000149.4:p.Leu124=
Search 100 bp 5'
Search 100 bp 3'