Canonical Allele Identifier: CA353687676
Gene: GBE1 HGNC NCBI

Linked Data

gnomAD v4: 3-81705482-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81705482G>T , CM000665.2:g.81705482G>T GRCh38
NC_000003.11:g.81754633G>T , CM000665.1:g.81754633G>T GRCh37
NC_000003.10:g.81837323G>T NCBI36
NG_011810.1:g.61319C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.275C>A MANE Select ENSP00000410833.2:p.Ala92Asp
ENST00000429644.6:c.275C>A ENSP00000410833.2:p.Ala92Asp
ENST00000489715.1:c.152C>A ENSP00000419638.1:p.Ala51Asp
NM_000158.3:c.275C>A NP_000149.3:p.Ala92Asp
NM_000158.4:c.275C>A MANE Select NP_000149.4:p.Ala92Asp