Canonical Allele Identifier: CA115764

Gene: GBE1

Linked Data

• ClinVar Variation Id: 2791
• ClinVar RCV Id: RCV000002925 ; RCV000501317 ; RCV001826408 ; RCV002512687
• dbSNP Id: rs137852893
• ExAC: 3:81692140 G / A
• gnomAD v2: 3-81692140-G-A
• gnomAD v4: 3-81642989-G-A
• MyVariant Identifiers: chr3:g.81692140G>A (hg19) ; chr3:g.81642989G>A (hg38)
• PubMed: PMID:16528737

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81642989G>A , CM000665.2:g.81642989G>A	GRCh38
NC_000003.11:g.81692140G>A , CM000665.1:g.81692140G>A	GRCh37
NC_000003.10:g.81774830G>A	NCBI36
NG_011810.1:g.123812C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.784C>T MANE Select	ENSP00000410833.2:p.Arg262Cys
ENST00000429644.6:c.784C>T	ENSP00000410833.2:p.Arg262Cys
ENST00000489715.1:c.661C>T	ENSP00000419638.1:p.Arg221Cys
ENST00000498468.1:n.334C>T
NM_000158.3:c.784C>T	NP_000149.3:p.Arg262Cys
NM_000158.4:c.784C>T MANE Select	NP_000149.4:p.Arg262Cys