Canonical Allele Identifier: CA2499879
Gene: GBE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 901280
ClinVar RCV Id: RCV001147054 RCV001147940 RCV002557151
dbSNP Id: rs757655010
ExAC: 3:81695639 T / C
gnomAD v2: 3-81695639-T-C
gnomAD v3: 3-81646488-T-C
gnomAD v4: 3-81646488-T-C
MyVariant Identifiers: chr3:g.81695639T>C (hg19) chr3:g.81646488T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81646488T>C , CM000665.2:g.81646488T>C GRCh38
NC_000003.11:g.81695639T>C , CM000665.1:g.81695639T>C GRCh37
NC_000003.10:g.81778329T>C NCBI36
NG_011810.1:g.120313A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.692-6A>G MANE Select ENSP00000410833.2:n.692-6A>G
ENST00000429644.6:c.692-6A>G ENSP00000410833.2:n.692-6A>G
ENST00000489715.1:c.569-6A>G ENSP00000419638.1:n.569-6A>G
ENST00000498468.1:n.236A>G
NM_000158.3:c.692-6A>G NP_000149.3:n.692-6A>G
NM_000158.4:c.692-6A>G MANE Select NP_000149.4:n.692-6A>G
Search 100 bp 5'
Search 100 bp 3'