Canonical Allele Identifier: CA2666623892
Gene: GBE1 HGNC NCBI

Linked Data

gnomAD v4: 3-81646486-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81646486T>C , CM000665.2:g.81646486T>C GRCh38
NC_000003.11:g.81695637T>C , CM000665.1:g.81695637T>C GRCh37
NC_000003.10:g.81778327T>C NCBI36
NG_011810.1:g.120315A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.692-4A>G MANE Select ENSP00000410833.2:n.692-4A>G
ENST00000429644.6:c.692-4A>G ENSP00000410833.2:n.692-4A>G
ENST00000489715.1:c.569-4A>G ENSP00000419638.1:n.569-4A>G
ENST00000498468.1:n.238A>G
NM_000158.3:c.692-4A>G NP_000149.3:n.692-4A>G
NM_000158.4:c.692-4A>G MANE Select NP_000149.4:n.692-4A>G
Search 100 bp 5'
Search 100 bp 3'