Canonical Allele Identifier: CA2577825876
Gene: GBE1 HGNC NCBI

Linked Data

gnomAD v4: 3-81646498-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81646498G>T , CM000665.2:g.81646498G>T GRCh38
NC_000003.11:g.81695649G>T , CM000665.1:g.81695649G>T GRCh37
NC_000003.10:g.81778339G>T NCBI36
NG_011810.1:g.120303C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.692-16C>A MANE Select ENSP00000410833.2:n.692-16C>A
ENST00000429644.6:c.692-16C>A ENSP00000410833.2:n.692-16C>A
ENST00000489715.1:c.569-16C>A ENSP00000419638.1:n.569-16C>A
ENST00000498468.1:n.226C>A
NM_000158.3:c.692-16C>A NP_000149.3:n.692-16C>A
NM_000158.4:c.692-16C>A MANE Select NP_000149.4:n.692-16C>A
Search 100 bp 5'
Search 100 bp 3'