Canonical Allele Identifier: CA353687790
Gene: GBE1 HGNC NCBI

Linked Data

dbSNP Id: rs1267044758
gnomAD v3: 3-81705530-A-C
gnomAD v4: 3-81705530-A-C
MyVariant Identifiers: chr3:g.81754681A>C (hg19) chr3:g.81705530A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81705530A>C , CM000665.2:g.81705530A>C GRCh38
NC_000003.11:g.81754681A>C , CM000665.1:g.81754681A>C GRCh37
NC_000003.10:g.81837371A>C NCBI36
NG_011810.1:g.61271T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.227T>G MANE Select ENSP00000410833.2:p.Phe76Cys
ENST00000429644.6:c.227T>G ENSP00000410833.2:p.Phe76Cys
ENST00000489715.1:c.104T>G ENSP00000419638.1:p.Phe35Cys
NM_000158.3:c.227T>G NP_000149.3:p.Phe76Cys
NM_000158.4:c.227T>G MANE Select NP_000149.4:p.Phe76Cys
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