Canonical Allele Identifier: CA1378708445
Community Standard Title: NM_000158.4(GBE1):c.986A= (p.Tyr329=)
Gene: GBE1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81642787T= , CM000665.2:g.81642787T= GRCh38
NC_000003.11:g.81691938T= , CM000665.1:g.81691938T= GRCh37
NC_000003.10:g.81774628T= NCBI36
NG_011810.1:g.124014A=

Transcript Alleles

HGVS Amino-acid Change
NM_000158.4:c.986A= MANE Select NP_000149.4:p.Tyr329=
ENST00000429644.7:c.986A= MANE Select ENSP00000410833.2:p.Tyr329=
NM_000158.3:c.986A= NP_000149.3:p.Tyr329=
ENST00000429644.6:c.986A= ENSP00000410833.2:p.Tyr329=
ENST00000489715.1:c.863A= ENSP00000419638.1:p.Tyr288=
ENST00000498468.1:n.536A=