Canonical Allele Identifier: CA353688922

Gene: GBE1

Linked Data

• gnomAD v4: 3-81670890-A-T
• MyVariant Identifiers: chr3:g.81720041A>T (hg19) ; chr3:g.81670890A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81670890A>T , CM000665.2:g.81670890A>T	GRCh38
NC_000003.11:g.81720041A>T , CM000665.1:g.81720041A>T	GRCh37
NC_000003.10:g.81802731A>T	NCBI36
NG_011810.1:g.95911T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.377T>A MANE Select	ENSP00000410833.2:p.Ile126Asn
ENST00000429644.6:c.377T>A	ENSP00000410833.2:p.Ile126Asn
ENST00000477426.1:n.93T>A
ENST00000489715.1:c.254T>A	ENSP00000419638.1:p.Ile85Asn
NM_000158.3:c.377T>A	NP_000149.3:p.Ile126Asn
NM_000158.4:c.377T>A MANE Select	NP_000149.4:p.Ile126Asn