Canonical Allele Identifier: CA78292185
Gene: GBE1 HGNC NCBI

Linked Data

dbSNP Id: rs771331101
gnomAD v2: 3-81695627-T-C
gnomAD v4: 3-81646476-T-C
MyVariant Identifiers: chr3:g.81695627T>C (hg19) chr3:g.81646476T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81646476T>C , CM000665.2:g.81646476T>C GRCh38
NC_000003.11:g.81695627T>C , CM000665.1:g.81695627T>C GRCh37
NC_000003.10:g.81778317T>C NCBI36
NG_011810.1:g.120325A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000429644.7:c.698A>G MANE Select ENSP00000410833.2:p.Asn233Ser
ENST00000429644.6:c.698A>G ENSP00000410833.2:p.Asn233Ser
ENST00000489715.1:c.575A>G ENSP00000419638.1:p.Asn192Ser
ENST00000498468.1:n.248A>G
NM_000158.3:c.698A>G NP_000149.3:p.Asn233Ser
NM_000158.4:c.698A>G MANE Select NP_000149.4:p.Asn233Ser
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Search 100 bp 3'