Canonical Allele Identifier: CA78284836
Gene: GBE1 HGNC NCBI

Linked Data

dbSNP Id: rs990250630
MyVariant Identifiers: chr3:g.81627058T>A (hg19) chr3:g.81577907T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81577907T>A , CM000665.2:g.81577907T>A GRCh38
NC_000003.11:g.81627058T>A , CM000665.1:g.81627058T>A GRCh37
NC_000003.10:g.81709748T>A NCBI36
NG_011810.1:g.188894A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.1618+18A>T MANE Select ENSP00000410833.2:n.1618+18A>T
ENST00000429644.6:c.1618+18A>T ENSP00000410833.2:n.1618+18A>T
ENST00000484687.1:n.19+18A>T
ENST00000489715.1:c.1495+18A>T ENSP00000419638.1:n.1495+18A>T
NM_000158.3:c.1618+18A>T NP_000149.3:n.1618+18A>T
NM_000158.4:c.1618+18A>T MANE Select NP_000149.4:n.1618+18A>T
Search 100 bp 5'
Search 100 bp 3'