Canonical Allele Identifier: CA353688147
Gene: GBE1 HGNC NCBI

Linked Data

gnomAD v4: 3-81646459-C-T
MyVariant Identifiers: chr3:g.81695610C>T (hg19) chr3:g.81646459C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81646459C>T , CM000665.2:g.81646459C>T GRCh38
NC_000003.11:g.81695610C>T , CM000665.1:g.81695610C>T GRCh37
NC_000003.10:g.81778300C>T NCBI36
NG_011810.1:g.120342G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.715G>A MANE Select ENSP00000410833.2:p.Ala239Thr
ENST00000429644.6:c.715G>A ENSP00000410833.2:p.Ala239Thr
ENST00000489715.1:c.592G>A ENSP00000419638.1:p.Ala198Thr
ENST00000498468.1:n.265G>A
NM_000158.3:c.715G>A NP_000149.3:p.Ala239Thr
NM_000158.4:c.715G>A MANE Select NP_000149.4:p.Ala239Thr
Search 100 bp 5'
Search 100 bp 3'