Canonical Allele Identifier: CA353688871
Gene: GBE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81670866A>G , CM000665.2:g.81670866A>G GRCh38
NC_000003.11:g.81720017A>G , CM000665.1:g.81720017A>G GRCh37
NC_000003.10:g.81802707A>G NCBI36
NG_011810.1:g.95935T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.401T>C MANE Select ENSP00000410833.2:p.Val134Ala
ENST00000429644.6:c.401T>C ENSP00000410833.2:p.Val134Ala
ENST00000477426.1:n.117T>C
ENST00000489715.1:c.278T>C ENSP00000419638.1:p.Val93Ala
NM_000158.3:c.401T>C NP_000149.3:p.Val134Ala
NM_000158.4:c.401T>C MANE Select NP_000149.4:p.Val134Ala