Canonical Allele Identifier: CA353684623
Gene: GBE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81577957C>A , CM000665.2:g.81577957C>A GRCh38
NC_000003.11:g.81627108C>A , CM000665.1:g.81627108C>A GRCh37
NC_000003.10:g.81709798C>A NCBI36
NG_011810.1:g.188844G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.1586G>T MANE Select ENSP00000410833.2:p.Gly529Val
ENST00000429644.6:c.1586G>T ENSP00000410833.2:p.Gly529Val
ENST00000489715.1:c.1463G>T ENSP00000419638.1:p.Gly488Val
NM_000158.3:c.1586G>T NP_000149.3:p.Gly529Val
NM_000158.4:c.1586G>T MANE Select NP_000149.4:p.Gly529Val