Canonical Allele Identifier: CA2499874
Gene: GBE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 346793
dbSNP Id: rs747155575
gnomAD v2: 3-81695604-T-C
gnomAD v3: 3-81646453-T-C
gnomAD v4: 3-81646453-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81646453T>C , CM000665.2:g.81646453T>C GRCh38
NC_000003.11:g.81695604T>C , CM000665.1:g.81695604T>C GRCh37
NC_000003.10:g.81778294T>C NCBI36
NG_011810.1:g.120348A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.721A>G MANE Select ENSP00000410833.2:p.Met241Val
ENST00000429644.6:c.721A>G ENSP00000410833.2:p.Met241Val
ENST00000489715.1:c.598A>G ENSP00000419638.1:p.Met200Val
ENST00000498468.1:n.271A>G
NM_000158.3:c.721A>G NP_000149.3:p.Met241Val
NM_000158.4:c.721A>G MANE Select NP_000149.4:p.Met241Val