Canonical Allele Identifier: CA2499810

Gene: GBE1

Linked Data

• ClinVar Variation Id: 478912
• ClinVar RCV Id: RCV000560920 ; RCV003767090
• dbSNP Id: rs763016962
• ExAC: 3:81643175 C / A
• gnomAD v2: 3-81643175-C-A
• gnomAD v3: 3-81594024-C-A
• gnomAD v4: 3-81594024-C-A
• MyVariant Identifiers: chr3:g.81643175C>A (hg19) ; chr3:g.81594024C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81594024C>A , CM000665.2:g.81594024C>A	GRCh38
NC_000003.11:g.81643175C>A , CM000665.1:g.81643175C>A	GRCh37
NC_000003.10:g.81725865C>A	NCBI36
NG_011810.1:g.172777G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.993-1G>T MANE Select	ENSP00000410833.2:n.993-1G>T
ENST00000429644.6:c.993-1G>T	ENSP00000410833.2:n.993-1G>T
ENST00000489715.1:c.870-1G>T	ENSP00000419638.1:n.870-1G>T
NM_000158.3:c.993-1G>T	NP_000149.3:n.993-1G>T
NM_000158.4:c.993-1G>T MANE Select	NP_000149.4:n.993-1G>T