Canonical Allele Identifier: CA276004
Gene: GBE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 208584
ClinVar RCV Id: RCV000190589 RCV000224184 RCV000368399 RCV000660553 RCV000706641 RCV001449661
dbSNP Id: rs192044702
ExAC: 3:81698005 A / G
gnomAD v2: 3-81698005-A-G
gnomAD v3: 3-81648854-A-G
gnomAD v4: 3-81648854-A-G
MyVariant Identifiers: chr3:g.81698005A>G (hg19) chr3:g.81648854A>G (hg38)
PubMed: PMID:19813197 PMID:23218673 PMID:25489661 PMID:26166723
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81648854A>G , CM000665.2:g.81648854A>G GRCh38
NC_000003.11:g.81698005A>G , CM000665.1:g.81698005A>G GRCh37
NC_000003.10:g.81780695A>G NCBI36
NG_011810.1:g.117947T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000429644.7:c.691+2T>C MANE Select ENSP00000410833.2:n.691+2T>C
ENST00000429644.6:c.691+2T>C ENSP00000410833.2:n.691+2T>C
ENST00000489715.1:c.568+2T>C ENSP00000419638.1:n.568+2T>C
ENST00000498468.1:n.219+2T>C
NM_000158.3:c.691+2T>C NP_000149.3:n.691+2T>C
NM_000158.4:c.691+2T>C MANE Select NP_000149.4:n.691+2T>C
Search 100 bp 5'
Search 100 bp 3'