Canonical Allele Identifier: CA434495509
Gene: GBE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1144129
ClinVar RCV Id: RCV001482528
dbSNP Id: rs76807363
gnomAD v2: 3-81754629-C-T
gnomAD v3: 3-81705478-C-T
gnomAD v4: 3-81705478-C-T
MyVariant Identifiers: chr3:g.81754629C>T (hg19) chr3:g.81705478C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81705478C>T , CM000665.2:g.81705478C>T GRCh38
NC_000003.11:g.81754629C>T , CM000665.1:g.81754629C>T GRCh37
NC_000003.10:g.81837319C>T NCBI36
NG_011810.1:g.61323G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.279G>A MANE Select ENSP00000410833.2:p.Pro93=
ENST00000429644.6:c.279G>A ENSP00000410833.2:p.Pro93=
ENST00000489715.1:c.156G>A ENSP00000419638.1:p.Pro52=
NM_000158.3:c.279G>A NP_000149.3:p.Pro93=
NM_000158.4:c.279G>A MANE Select NP_000149.4:p.Pro93=
Search 100 bp 5'
Search 100 bp 3'