Canonical Allele Identifier: CA2666620932
Gene: GBE1 HGNC NCBI

Linked Data

gnomAD v4: 3-81535450-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81535450T>A , CM000665.2:g.81535450T>A GRCh38
NC_000003.11:g.81584601T>A , CM000665.1:g.81584601T>A GRCh37
NC_000003.10:g.81667291T>A NCBI36
NG_011810.1:g.231351A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.1804-125A>T MANE Select ENSP00000410833.2:n.1804-125A>T
ENST00000429644.6:c.1804-125A>T ENSP00000410833.2:n.1804-125A>T
ENST00000484687.1:n.205-125A>T
ENST00000489715.1:c.1681-125A>T ENSP00000419638.1:n.1681-125A>T
NM_000158.3:c.1804-125A>T NP_000149.3:n.1804-125A>T
NM_000158.4:c.1804-125A>T MANE Select NP_000149.4:n.1804-125A>T