Canonical Allele Identifier: CA2499733

Gene: GBE1

Linked Data

• ClinVar Variation Id: 346791
• ClinVar RCV Id: RCV000339774 ; RCV000408225 ; RCV000616457 ; RCV002061237
• dbSNP Id: rs376809475
• ExAC: 3:81635356 G / A
• gnomAD v2: 3-81635356-G-A
• gnomAD v3: 3-81586205-G-A
• gnomAD v4: 3-81586205-G-A
• MyVariant Identifiers: chr3:g.81635356G>A (hg19) ; chr3:g.81586205G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81586205G>A , CM000665.2:g.81586205G>A	GRCh38
NC_000003.11:g.81635356G>A , CM000665.1:g.81635356G>A	GRCh37
NC_000003.10:g.81718046G>A	NCBI36
NG_011810.1:g.180596C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.1237-15C>T MANE Select	ENSP00000410833.2:n.1237-15C>T
ENST00000429644.6:c.1237-15C>T	ENSP00000410833.2:n.1237-15C>T
ENST00000489715.1:c.1114-15C>T	ENSP00000419638.1:n.1114-15C>T
NM_000158.3:c.1237-15C>T	NP_000149.3:n.1237-15C>T
NM_000158.4:c.1237-15C>T MANE Select	NP_000149.4:n.1237-15C>T