Canonical Allele Identifier: CA434495642
Gene: GBE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2930386
ClinVar RCV Id: RCV003789696
dbSNP Id: rs1395798484
gnomAD v3: 3-81705496-G-A
gnomAD v4: 3-81705496-G-A
MyVariant Identifiers: chr3:g.81754647G>A (hg19) chr3:g.81705496G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81705496G>A , CM000665.2:g.81705496G>A GRCh38
NC_000003.11:g.81754647G>A , CM000665.1:g.81754647G>A GRCh37
NC_000003.10:g.81837337G>A NCBI36
NG_011810.1:g.61305C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.261C>T MANE Select ENSP00000410833.2:p.Tyr87=
ENST00000429644.6:c.261C>T ENSP00000410833.2:p.Tyr87=
ENST00000489715.1:c.138C>T ENSP00000419638.1:p.Tyr46=
NM_000158.3:c.261C>T NP_000149.3:p.Tyr87=
NM_000158.4:c.261C>T MANE Select NP_000149.4:p.Tyr87=
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