Canonical Allele Identifier: CA353687089
Gene: GBE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81761503C>G , CM000665.2:g.81761503C>G GRCh38
NC_000003.11:g.81810654C>G , CM000665.1:g.81810654C>G GRCh37
NC_000003.10:g.81893344C>G NCBI36
NG_011810.1:g.5298G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.15G>C MANE Select ENSP00000410833.2:p.Met5Ile
ENST00000429644.6:c.15G>C ENSP00000410833.2:p.Met5Ile
NM_000158.3:c.15G>C NP_000149.3:p.Met5Ile
NM_000158.4:c.15G>C MANE Select NP_000149.4:p.Met5Ile