Canonical Allele Identifier: CA353684721

Gene: GBE1

Linked Data

• MyVariant Identifiers: chr3:g.81627154C>G (hg19) ; chr3:g.81578003C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81578003C>G , CM000665.2:g.81578003C>G	GRCh38
NC_000003.11:g.81627154C>G , CM000665.1:g.81627154C>G	GRCh37
NC_000003.10:g.81709844C>G	NCBI36
NG_011810.1:g.188798G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000429644.7:c.1540G>C MANE Select	ENSP00000410833.2:p.Asp514His
ENST00000429644.6:c.1540G>C	ENSP00000410833.2:p.Asp514His
ENST00000489715.1:c.1417G>C	ENSP00000419638.1:p.Asp473His
NM_000158.3:c.1540G>C	NP_000149.3:p.Asp514His
NM_000158.4:c.1540G>C MANE Select	NP_000149.4:p.Asp514His