Canonical Allele Identifier: CA2577825661
Gene: GBE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2932809
ClinVar RCV Id: RCV003797975
gnomAD v4: 3-81577909-T-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81577909T>A , CM000665.2:g.81577909T>A GRCh38
NC_000003.11:g.81627060T>A , CM000665.1:g.81627060T>A GRCh37
NC_000003.10:g.81709750T>A NCBI36
NG_011810.1:g.188892A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.1618+16A>T MANE Select ENSP00000410833.2:n.1618+16A>T
ENST00000429644.6:c.1618+16A>T ENSP00000410833.2:n.1618+16A>T
ENST00000484687.1:n.19+16A>T
ENST00000489715.1:c.1495+16A>T ENSP00000419638.1:n.1495+16A>T
NM_000158.3:c.1618+16A>T NP_000149.3:n.1618+16A>T
NM_000158.4:c.1618+16A>T MANE Select NP_000149.4:n.1618+16A>T
Search 100 bp 5'
Search 100 bp 3'