Canonical Allele Identifier: CA2499484

Gene: GBE1

Linked Data

• ClinVar Variation Id: 346783
• ClinVar RCV Id: RCV000297840 ; RCV000357256 ; RCV001354590 ; RCV000966281
• dbSNP Id: rs202158511
• ExAC: 3:81548278 G / A
• gnomAD v2: 3-81548278-G-A
• gnomAD v3: 3-81499127-G-A
• gnomAD v4: 3-81499127-G-A
• COSMIC: COSM4120394 ; COSM4120395
• MyVariant Identifiers: chr3:g.81548278G>A (hg19) ; chr3:g.81499127G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81499127G>A , CM000665.2:g.81499127G>A	GRCh38
NC_000003.11:g.81548278G>A , CM000665.1:g.81548278G>A	GRCh37
NC_000003.10:g.81630968G>A	NCBI36
NG_011810.1:g.267674C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.2035C>T MANE Select	ENSP00000410833.2:p.Arg679Cys
ENST00000429644.6:c.2035C>T	ENSP00000410833.2:p.Arg679Cys
ENST00000489715.1:c.1912C>T	ENSP00000419638.1:p.Arg638Cys
NM_000158.3:c.2035C>T	NP_000149.3:p.Arg679Cys
NM_000158.4:c.2035C>T MANE Select	NP_000149.4:p.Arg679Cys