Canonical Allele Identifier: CA115762

Gene: GBE1

Linked Data

• ClinVar Variation Id: 2790
• ClinVar RCV Id: RCV000002924 ; RCV001580444 ; RCV002254901 ; RCV001851597 ; RCV004532277
• dbSNP Id: rs137852892
• ExAC: 3:81695617 C / G
• gnomAD v2: 3-81695617-C-G
• gnomAD v3: 3-81646466-C-G
• gnomAD v4: 3-81646466-C-G
• MyVariant Identifiers: chr3:g.81695617C>G (hg19) ; chr3:g.81646466C>G (hg38)
• PubMed: PMID:16528737

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81646466C>G , CM000665.2:g.81646466C>G	GRCh38
NC_000003.11:g.81695617C>G , CM000665.1:g.81695617C>G	GRCh37
NC_000003.10:g.81778307C>G	NCBI36
NG_011810.1:g.120335G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.708G>C MANE Select	ENSP00000410833.2:p.Gln236His
ENST00000429644.6:c.708G>C	ENSP00000410833.2:p.Gln236His
ENST00000489715.1:c.585G>C	ENSP00000419638.1:p.Gln195His
ENST00000498468.1:n.258G>C
NM_000158.3:c.708G>C	NP_000149.3:p.Gln236His
NM_000158.4:c.708G>C MANE Select	NP_000149.4:p.Gln236His