Canonical Allele Identifier: CA434492445
Gene: GBE1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.81627155A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81578004A>T , CM000665.2:g.81578004A>T GRCh38
NC_000003.11:g.81627155A>T , CM000665.1:g.81627155A>T GRCh37
NC_000003.10:g.81709845A>T NCBI36
NG_011810.1:g.188797T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000429644.7:c.1539T>A MANE Select ENSP00000410833.2:p.Ile513=
ENST00000429644.6:c.1539T>A ENSP00000410833.2:p.Ile513=
ENST00000489715.1:c.1416T>A ENSP00000419638.1:p.Ile472=
NM_000158.3:c.1539T>A NP_000149.3:p.Ile513=
NM_000158.4:c.1539T>A MANE Select NP_000149.4:p.Ile513=