Canonical Allele Identifier: CA2499681

Gene: GBE1

Linked Data

• ClinVar Variation Id: 346790
• ClinVar RCV Id: RCV000301163 ; RCV000400318 ; RCV001570231 ; RCV000966414
• dbSNP Id: rs563241317
• ExAC: 3:81630370 G / A
• gnomAD v2: 3-81630370-G-A
• gnomAD v3: 3-81581219-G-A
• gnomAD v4: 3-81581219-G-A
• MyVariant Identifiers: chr3:g.81630370G>A (hg19) ; chr3:g.81581219G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81581219G>A , CM000665.2:g.81581219G>A	GRCh38
NC_000003.11:g.81630370G>A , CM000665.1:g.81630370G>A	GRCh37
NC_000003.10:g.81713060G>A	NCBI36
NG_011810.1:g.185582C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.1392C>T MANE Select	ENSP00000410833.2:p.Leu464=
ENST00000429644.6:c.1392C>T	ENSP00000410833.2:p.Leu464=
ENST00000489715.1:c.1269C>T	ENSP00000419638.1:p.Leu423=
NM_000158.3:c.1392C>T	NP_000149.3:p.Leu464=
NM_000158.4:c.1392C>T MANE Select	NP_000149.4:p.Leu464=