Canonical Allele Identifier: CA353688105
Gene: GBE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1338989
ClinVar RCV Id: RCV001823443 RCV002542729
dbSNP Id: rs2107066005
gnomAD v4: 3-81646441-A-G
MyVariant Identifiers: chr3:g.81695592A>G (hg19) chr3:g.81646441A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81646441A>G , CM000665.2:g.81646441A>G GRCh38
NC_000003.11:g.81695592A>G , CM000665.1:g.81695592A>G GRCh37
NC_000003.10:g.81778282A>G NCBI36
NG_011810.1:g.120360T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.733T>C MANE Select ENSP00000410833.2:p.Tyr245His
ENST00000429644.6:c.733T>C ENSP00000410833.2:p.Tyr245His
ENST00000489715.1:c.610T>C ENSP00000419638.1:p.Tyr204His
ENST00000498468.1:n.283T>C
NM_000158.3:c.733T>C NP_000149.3:p.Tyr245His
NM_000158.4:c.733T>C MANE Select NP_000149.4:p.Tyr245His
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