Canonical Allele Identifier: CA2499529
Gene: GBE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1133600
ClinVar RCV Id: RCV001468231
dbSNP Id: rs754115580
ExAC: 3:81584378 A / G
gnomAD v2: 3-81584378-A-G
gnomAD v4: 3-81535227-A-G
MyVariant Identifiers: chr3:g.81584378A>G (hg19) chr3:g.81535227A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81535227A>G , CM000665.2:g.81535227A>G GRCh38
NC_000003.11:g.81584378A>G , CM000665.1:g.81584378A>G GRCh37
NC_000003.10:g.81667068A>G NCBI36
NG_011810.1:g.231574T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.1902T>C MANE Select ENSP00000410833.2:p.Thr634=
ENST00000429644.6:c.1902T>C ENSP00000410833.2:p.Thr634=
ENST00000484687.1:n.303T>C
ENST00000489715.1:c.1779T>C ENSP00000419638.1:p.Thr593=
NM_000158.3:c.1902T>C NP_000149.3:p.Thr634=
NM_000158.4:c.1902T>C MANE Select NP_000149.4:p.Thr634=
Search 100 bp 5'
Search 100 bp 3'