Canonical Allele Identifier: CA115762
Gene: GBE1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 2790
ClinVar RCV Id: RCV000002924
dbSNP Id: rs137852892

User contributed link-outs

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
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 VV NP_000149.3:p.Gln236His