Canonical Allele Identifier: CA2499997

Gene: GBE1

Linked Data

• ClinVar Variation Id: 255388
• ClinVar RCV Id: RCV000249982 ; RCV000286676 ; RCV000389955 ; RCV001517923 ; RCV000675510
• dbSNP Id: rs13320194
• ExAC: 3:81720076 G / A
• gnomAD v2: 3-81720076-G-A
• gnomAD v3: 3-81670925-G-A
• gnomAD v4: 3-81670925-G-A
• MyVariant Identifiers: chr3:g.81720076G>A (hg19) ; chr3:g.81670925G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81670925G>A , CM000665.2:g.81670925G>A	GRCh38
NC_000003.11:g.81720076G>A , CM000665.1:g.81720076G>A	GRCh37
NC_000003.10:g.81802766G>A	NCBI36
NG_011810.1:g.95876C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.342C>T MANE Select	ENSP00000410833.2:p.Tyr114=
ENST00000429644.6:c.342C>T	ENSP00000410833.2:p.Tyr114=
ENST00000477426.1:n.58C>T
ENST00000489715.1:c.219C>T	ENSP00000419638.1:p.Tyr73=
NM_000158.3:c.342C>T	NP_000149.3:p.Tyr114=
NM_000158.4:c.342C>T MANE Select	NP_000149.4:p.Tyr114=