Canonical Allele Identifier: CA78298509
Gene: GBE1 HGNC NCBI

Linked Data

dbSNP Id: rs895720950
gnomAD v4: 3-81705476-C-G
MyVariant Identifiers: chr3:g.81754627C>G (hg19) chr3:g.81705476C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81705476C>G , CM000665.2:g.81705476C>G GRCh38
NC_000003.11:g.81754627C>G , CM000665.1:g.81754627C>G GRCh37
NC_000003.10:g.81837317C>G NCBI36
NG_011810.1:g.61325G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.281G>C MANE Select ENSP00000410833.2:p.Gly94Ala
ENST00000429644.6:c.281G>C ENSP00000410833.2:p.Gly94Ala
ENST00000489715.1:c.158G>C ENSP00000419638.1:p.Gly53Ala
NM_000158.3:c.281G>C NP_000149.3:p.Gly94Ala
NM_000158.4:c.281G>C MANE Select NP_000149.4:p.Gly94Ala
Search 100 bp 5'
Search 100 bp 3'