Canonical Allele Identifier: CA434494563
Gene: GBE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1161699
ClinVar RCV Id: RCV001506344
dbSNP Id: rs1343991404
gnomAD v2: 3-81584474-G-T
gnomAD v4: 3-81535323-G-T
MyVariant Identifiers: chr3:g.81584474G>T (hg19) chr3:g.81535323G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81535323G>T , CM000665.2:g.81535323G>T GRCh38
NC_000003.11:g.81584474G>T , CM000665.1:g.81584474G>T GRCh37
NC_000003.10:g.81667164G>T NCBI36
NG_011810.1:g.231478C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.1806C>A MANE Select ENSP00000410833.2:p.Ala602=
ENST00000429644.6:c.1806C>A ENSP00000410833.2:p.Ala602=
ENST00000484687.1:n.207C>A
ENST00000489715.1:c.1683C>A ENSP00000419638.1:p.Ala561=
NM_000158.3:c.1806C>A NP_000149.3:p.Ala602=
NM_000158.4:c.1806C>A MANE Select NP_000149.4:p.Ala602=
Search 100 bp 5'
Search 100 bp 3'