Canonical Allele Identifier: CA276004

Gene: GBE1

Linked Data

• ClinVar Variation Id: 208584
• ClinVar RCV Id: RCV000190589 ; RCV000368399 ; RCV000224184 ; RCV000660553 ; RCV000706641 ; RCV001449661 ; RCV003388833 ; RCV004020302
• 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

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