Canonical Allele Identifier: CA434496073
Gene: GBE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1126396
ClinVar RCV Id: RCV001458437
dbSNP Id: rs1399020199
gnomAD v2: 3-81754713-A-G
gnomAD v4: 3-81705562-A-G
MyVariant Identifiers: chr3:g.81754713A>G (hg19) chr3:g.81705562A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81705562A>G , CM000665.2:g.81705562A>G GRCh38
NC_000003.11:g.81754713A>G , CM000665.1:g.81754713A>G GRCh37
NC_000003.10:g.81837403A>G NCBI36
NG_011810.1:g.61239T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.195T>C MANE Select ENSP00000410833.2:p.Gly65=
ENST00000429644.6:c.195T>C ENSP00000410833.2:p.Gly65=
ENST00000489715.1:c.72T>C ENSP00000419638.1:p.Gly24=
NM_000158.3:c.195T>C NP_000149.3:p.Gly65=
NM_000158.4:c.195T>C MANE Select NP_000149.4:p.Gly65=
Search 100 bp 5'
Search 100 bp 3'