Canonical Allele Identifier: CA434492423
Gene: GBE1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.81627149A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81577998A>T , CM000665.2:g.81577998A>T GRCh38
NC_000003.11:g.81627149A>T , CM000665.1:g.81627149A>T GRCh37
NC_000003.10:g.81709839A>T NCBI36
NG_011810.1:g.188803T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.1545T>A MANE Select ENSP00000410833.2:p.Arg515=
ENST00000429644.6:c.1545T>A ENSP00000410833.2:p.Arg515=
ENST00000489715.1:c.1422T>A ENSP00000419638.1:p.Arg474=
NM_000158.3:c.1545T>A NP_000149.3:p.Arg515=
NM_000158.4:c.1545T>A MANE Select NP_000149.4:p.Arg515=