Canonical Allele Identifier: CA353688843
Gene: GBE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 435291
ClinVar RCV Id: RCV000500431
dbSNP Id: rs1553690406
gnomAD v4: 3-81670852-C-A
MyVariant Identifiers: chr3:g.81720003C>A (hg19) chr3:g.81670852C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81670852C>A , CM000665.2:g.81670852C>A GRCh38
NC_000003.11:g.81720003C>A , CM000665.1:g.81720003C>A GRCh37
NC_000003.10:g.81802693C>A NCBI36
NG_011810.1:g.95949G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000429644.7:c.415G>T MANE Select ENSP00000410833.2:p.Gly139Ter
ENST00000429644.6:c.415G>T ENSP00000410833.2:p.Gly139Ter
ENST00000477426.1:n.131G>T
ENST00000489715.1:c.292G>T ENSP00000419638.1:p.Gly98Ter
NM_000158.3:c.415G>T NP_000149.3:p.Gly139Ter
NM_000158.4:c.415G>T MANE Select NP_000149.4:p.Gly139Ter
Search 100 bp 5'
Search 100 bp 3'