Canonical Allele Identifier: CA911023468
Gene: GBE1 HGNC NCBI

Linked Data

dbSNP Id: rs1354298530
gnomAD v3: 3-81648756-A-G
gnomAD v4: 3-81648756-A-G
MyVariant Identifiers: chr3:g.81697907A>G (hg19) chr3:g.81648756A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81648756A>G , CM000665.2:g.81648756A>G GRCh38
NC_000003.11:g.81697907A>G , CM000665.1:g.81697907A>G GRCh37
NC_000003.10:g.81780597A>G NCBI36
NG_011810.1:g.118045T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000429644.7:c.691+100T>C MANE Select ENSP00000410833.2:n.691+100T>C
ENST00000429644.6:c.691+100T>C ENSP00000410833.2:n.691+100T>C
ENST00000489715.1:c.568+100T>C ENSP00000419638.1:n.568+100T>C
ENST00000498468.1:n.219+100T>C
NM_000158.3:c.691+100T>C NP_000149.3:n.691+100T>C
NM_000158.4:c.691+100T>C MANE Select NP_000149.4:n.691+100T>C
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