Canonical Allele Identifier: CA353688164
Gene: GBE1 HGNC NCBI

Linked Data

gnomAD v4: 3-81646466-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81646466C>A , CM000665.2:g.81646466C>A GRCh38
NC_000003.11:g.81695617C>A , CM000665.1:g.81695617C>A GRCh37
NC_000003.10:g.81778307C>A NCBI36
NG_011810.1:g.120335G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.708G>T MANE Select ENSP00000410833.2:p.Gln236His
ENST00000429644.6:c.708G>T ENSP00000410833.2:p.Gln236His
ENST00000489715.1:c.585G>T ENSP00000419638.1:p.Gln195His
ENST00000498468.1:n.258G>T
NM_000158.3:c.708G>T NP_000149.3:p.Gln236His
NM_000158.4:c.708G>T MANE Select NP_000149.4:p.Gln236His