Canonical Allele Identifier: CA207609

Gene: GBE1

Linked Data

• ClinVar Variation Id: 211070
• ClinVar RCV Id: RCV000193851 ; RCV000973898 ; RCV001146946 ; RCV001146945 ; RCV001699060
• dbSNP Id: rs372821643
• ExAC: 3:81627173 A / G
• gnomAD v2: 3-81627173-A-G
• gnomAD v3: 3-81578022-A-G
• gnomAD v4: 3-81578022-A-G
• MyVariant Identifiers: chr3:g.81627173A>G (hg19) ; chr3:g.81578022A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81578022A>G , CM000665.2:g.81578022A>G	GRCh38
NC_000003.11:g.81627173A>G , CM000665.1:g.81627173A>G	GRCh37
NC_000003.10:g.81709863A>G	NCBI36
NG_011810.1:g.188779T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.1521T>C MANE Select	ENSP00000410833.2:p.Thr507=
ENST00000429644.6:c.1521T>C	ENSP00000410833.2:p.Thr507=
ENST00000489715.1:c.1398T>C	ENSP00000419638.1:p.Thr466=
NM_000158.3:c.1521T>C	NP_000149.3:p.Thr507=
NM_000158.4:c.1521T>C MANE Select	NP_000149.4:p.Thr507=