Canonical Allele Identifier: CA353688170
Gene: GBE1 HGNC NCBI

Linked Data

gnomAD v4: 3-81646469-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81646469A>C , CM000665.2:g.81646469A>C GRCh38
NC_000003.11:g.81695620A>C , CM000665.1:g.81695620A>C GRCh37
NC_000003.10:g.81778310A>C NCBI36
NG_011810.1:g.120332T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.705T>G MANE Select ENSP00000410833.2:p.Ile235Met
ENST00000429644.6:c.705T>G ENSP00000410833.2:p.Ile235Met
ENST00000489715.1:c.582T>G ENSP00000419638.1:p.Ile194Met
ENST00000498468.1:n.255T>G
NM_000158.3:c.705T>G NP_000149.3:p.Ile235Met
NM_000158.4:c.705T>G MANE Select NP_000149.4:p.Ile235Met