Canonical Allele Identifier: CA434492410
Gene: GBE1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.81627146T>G (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81577995T>G , CM000665.2:g.81577995T>G GRCh38
NC_000003.11:g.81627146T>G , CM000665.1:g.81627146T>G GRCh37
NC_000003.10:g.81709836T>G NCBI36
NG_011810.1:g.188806A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000429644.7:c.1548A>C MANE Select ENSP00000410833.2:p.Gly516=
ENST00000429644.6:c.1548A>C ENSP00000410833.2:p.Gly516=
ENST00000489715.1:c.1425A>C ENSP00000419638.1:p.Gly475=
NM_000158.3:c.1548A>C NP_000149.3:p.Gly516=
NM_000158.4:c.1548A>C MANE Select NP_000149.4:p.Gly516=
Search 100 bp 5'
Search 100 bp 3'