Canonical Allele Identifier: CA2666607856
Gene: GBE1 HGNC NCBI

Linked Data

gnomAD v4: 3-81705718-A-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81705718A>T , CM000665.2:g.81705718A>T GRCh38
NC_000003.11:g.81754869A>T , CM000665.1:g.81754869A>T GRCh37
NC_000003.10:g.81837559A>T NCBI36
NG_011810.1:g.61083T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.144-105T>A MANE Select ENSP00000410833.2:n.144-105T>A
ENST00000429644.6:c.144-105T>A ENSP00000410833.2:n.144-105T>A
ENST00000489715.1:c.21-105T>A ENSP00000419638.1:n.21-105T>A
NM_000158.3:c.144-105T>A NP_000149.3:n.144-105T>A
NM_000158.4:c.144-105T>A MANE Select NP_000149.4:n.144-105T>A
Search 100 bp 5'
Search 100 bp 3'