Canonical Allele Identifier: CA353688133
Gene: GBE1 HGNC NCBI

Linked Data

dbSNP Id: rs1174289864
gnomAD v2: 3-81695603-A-G
gnomAD v4: 3-81646452-A-G
MyVariant Identifiers: chr3:g.81695603A>G (hg19) chr3:g.81646452A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81646452A>G , CM000665.2:g.81646452A>G GRCh38
NC_000003.11:g.81695603A>G , CM000665.1:g.81695603A>G GRCh37
NC_000003.10:g.81778293A>G NCBI36
NG_011810.1:g.120349T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.722T>C MANE Select ENSP00000410833.2:p.Met241Thr
ENST00000429644.6:c.722T>C ENSP00000410833.2:p.Met241Thr
ENST00000489715.1:c.599T>C ENSP00000419638.1:p.Met200Thr
ENST00000498468.1:n.272T>C
NM_000158.3:c.722T>C NP_000149.3:p.Met241Thr
NM_000158.4:c.722T>C MANE Select NP_000149.4:p.Met241Thr
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