Canonical Allele Identifier: CA544277856
Gene: GBE1 HGNC NCBI

Linked Data

dbSNP Id: rs1369699999
gnomAD v2: 3-81695781-T-A
gnomAD v3: 3-81646630-T-A
gnomAD v4: 3-81646630-T-A
MyVariant Identifiers: chr3:g.81695781T>A (hg19) chr3:g.81646630T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81646630T>A , CM000665.2:g.81646630T>A GRCh38
NC_000003.11:g.81695781T>A , CM000665.1:g.81695781T>A GRCh37
NC_000003.10:g.81778471T>A NCBI36
NG_011810.1:g.120171A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.692-148A>T MANE Select ENSP00000410833.2:n.692-148A>T
ENST00000429644.6:c.692-148A>T ENSP00000410833.2:n.692-148A>T
ENST00000489715.1:c.569-148A>T ENSP00000419638.1:n.569-148A>T
ENST00000498468.1:n.220-126A>T
NM_000158.3:c.692-148A>T NP_000149.3:n.692-148A>T
NM_000158.4:c.692-148A>T MANE Select NP_000149.4:n.692-148A>T
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