Canonical Allele Identifier: CA434495489
Gene: GBE1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.81754626T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81705475T>G , CM000665.2:g.81705475T>G GRCh38
NC_000003.11:g.81754626T>G , CM000665.1:g.81754626T>G GRCh37
NC_000003.10:g.81837316T>G NCBI36
NG_011810.1:g.61326A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.282A>C MANE Select ENSP00000410833.2:p.Gly94=
ENST00000429644.6:c.282A>C ENSP00000410833.2:p.Gly94=
ENST00000489715.1:c.159A>C ENSP00000419638.1:p.Gly53=
NM_000158.3:c.282A>C NP_000149.3:p.Gly94=
NM_000158.4:c.282A>C MANE Select NP_000149.4:p.Gly94=