Canonical Allele Identifier: CA353687690

Gene: GBE1

Linked Data

• MyVariant Identifiers: chr3:g.81754638T>A (hg19) ; chr3:g.81705487T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81705487T>A , CM000665.2:g.81705487T>A	GRCh38
NC_000003.11:g.81754638T>A , CM000665.1:g.81754638T>A	GRCh37
NC_000003.10:g.81837328T>A	NCBI36
NG_011810.1:g.61314A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.270A>T MANE Select	ENSP00000410833.2:p.Glu90Asp
ENST00000429644.6:c.270A>T	ENSP00000410833.2:p.Glu90Asp
ENST00000489715.1:c.147A>T	ENSP00000419638.1:p.Glu49Asp
NM_000158.3:c.270A>T	NP_000149.3:p.Glu90Asp
NM_000158.4:c.270A>T MANE Select	NP_000149.4:p.Glu90Asp