Canonical Allele Identifier: CA353687659
Gene: GBE1 HGNC NCBI

Linked Data

gnomAD v4: 3-81705473-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81705473G>A , CM000665.2:g.81705473G>A GRCh38
NC_000003.11:g.81754624G>A , CM000665.1:g.81754624G>A GRCh37
NC_000003.10:g.81837314G>A NCBI36
NG_011810.1:g.61328C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.284C>T MANE Select ENSP00000410833.2:p.Ala95Val
ENST00000429644.6:c.284C>T ENSP00000410833.2:p.Ala95Val
ENST00000489715.1:c.161C>T ENSP00000419638.1:p.Ala54Val
NM_000158.3:c.284C>T NP_000149.3:p.Ala95Val
NM_000158.4:c.284C>T MANE Select NP_000149.4:p.Ala95Val