Canonical Allele Identifier: CA434496960
Gene: GBE1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.81720100A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81670949A>C , CM000665.2:g.81670949A>C GRCh38
NC_000003.11:g.81720100A>C , CM000665.1:g.81720100A>C GRCh37
NC_000003.10:g.81802790A>C NCBI36
NG_011810.1:g.95852T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.318T>G MANE Select ENSP00000410833.2:p.Gly106=
ENST00000429644.6:c.318T>G ENSP00000410833.2:p.Gly106=
ENST00000477426.1:n.34T>G
ENST00000489715.1:c.195T>G ENSP00000419638.1:p.Gly65=
NM_000158.3:c.318T>G NP_000149.3:p.Gly106=
NM_000158.4:c.318T>G MANE Select NP_000149.4:p.Gly106=