Canonical Allele Identifier: CA544502695
Gene: GBE1 HGNC NCBI

Linked Data

dbSNP Id: rs761033128
gnomAD v2: 3-81627042-A-G
gnomAD v4: 3-81577891-A-G
MyVariant Identifiers: chr3:g.81627042A>G (hg19) chr3:g.81577891A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81577891A>G , CM000665.2:g.81577891A>G GRCh38
NC_000003.11:g.81627042A>G , CM000665.1:g.81627042A>G GRCh37
NC_000003.10:g.81709732A>G NCBI36
NG_011810.1:g.188910T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000429644.7:c.1618+34T>C MANE Select ENSP00000410833.2:n.1618+34T>C
ENST00000429644.6:c.1618+34T>C ENSP00000410833.2:n.1618+34T>C
ENST00000484687.1:n.19+34T>C
ENST00000489715.1:c.1495+34T>C ENSP00000419638.1:n.1495+34T>C
NM_000158.3:c.1618+34T>C NP_000149.3:n.1618+34T>C
NM_000158.4:c.1618+34T>C MANE Select NP_000149.4:n.1618+34T>C
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