Canonical Allele Identifier: CA434496921
Gene: GBE1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.81720016T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81670865T>A , CM000665.2:g.81670865T>A GRCh38
NC_000003.11:g.81720016T>A , CM000665.1:g.81720016T>A GRCh37
NC_000003.10:g.81802706T>A NCBI36
NG_011810.1:g.95936A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.402A>T MANE Select ENSP00000410833.2:p.Val134=
ENST00000429644.6:c.402A>T ENSP00000410833.2:p.Val134=
ENST00000477426.1:n.118A>T
ENST00000489715.1:c.279A>T ENSP00000419638.1:p.Val93=
NM_000158.3:c.402A>T NP_000149.3:p.Val134=
NM_000158.4:c.402A>T MANE Select NP_000149.4:p.Val134=