Canonical Allele Identifier: CA353688004
Gene: GBE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 816853
ClinVar RCV Id: RCV001007858
dbSNP Id: rs1576183525
MyVariant Identifiers: chr3:g.81695549G>C (hg19) chr3:g.81646398G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81646398G>C , CM000665.2:g.81646398G>C GRCh38
NC_000003.11:g.81695549G>C , CM000665.1:g.81695549G>C GRCh37
NC_000003.10:g.81778239G>C NCBI36
NG_011810.1:g.120403C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.776C>G MANE Select ENSP00000410833.2:p.Ala259Gly
ENST00000429644.6:c.776C>G ENSP00000410833.2:p.Ala259Gly
ENST00000489715.1:c.653C>G ENSP00000419638.1:p.Ala218Gly
ENST00000498468.1:n.326C>G
NM_000158.3:c.776C>G NP_000149.3:p.Ala259Gly
NM_000158.4:c.776C>G MANE Select NP_000149.4:p.Ala259Gly
Search 100 bp 5'
Search 100 bp 3'