Canonical Allele Identifier: CA434496929
Gene: GBE1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.81720028C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81670877C>T , CM000665.2:g.81670877C>T GRCh38
NC_000003.11:g.81720028C>T , CM000665.1:g.81720028C>T GRCh37
NC_000003.10:g.81802718C>T NCBI36
NG_011810.1:g.95924G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.390G>A MANE Select ENSP00000410833.2:p.Gln130=
ENST00000429644.6:c.390G>A ENSP00000410833.2:p.Gln130=
ENST00000477426.1:n.106G>A
ENST00000489715.1:c.267G>A ENSP00000419638.1:p.Gln89=
NM_000158.3:c.390G>A NP_000149.3:p.Gln130=
NM_000158.4:c.390G>A MANE Select NP_000149.4:p.Gln130=