Canonical Allele Identifier: CA2666623926
Gene: GBE1 HGNC NCBI

Linked Data

gnomAD v4: 3-81646523-T-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81646523T>A , CM000665.2:g.81646523T>A GRCh38
NC_000003.11:g.81695674T>A , CM000665.1:g.81695674T>A GRCh37
NC_000003.10:g.81778364T>A NCBI36
NG_011810.1:g.120278A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.692-41A>T MANE Select ENSP00000410833.2:n.692-41A>T
ENST00000429644.6:c.692-41A>T ENSP00000410833.2:n.692-41A>T
ENST00000489715.1:c.569-41A>T ENSP00000419638.1:n.569-41A>T
ENST00000498468.1:n.220-19A>T
NM_000158.3:c.692-41A>T NP_000149.3:n.692-41A>T
NM_000158.4:c.692-41A>T MANE Select NP_000149.4:n.692-41A>T
Search 100 bp 5'
Search 100 bp 3'