Canonical Allele Identifier: CA10586876

Gene: GBE1

Linked Data

• ClinVar Variation Id: 255391
• ClinVar RCV Id: RCV000242220 ; RCV001854949
• dbSNP Id: rs886038263
• gnomAD v2: 3-81695616-A-G
• gnomAD v3: 3-81646465-A-G
• gnomAD v4: 3-81646465-A-G
• MyVariant Identifiers: chr3:g.81695616A>G (hg19) ; chr3:g.81646465A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81646465A>G , CM000665.2:g.81646465A>G	GRCh38
NC_000003.11:g.81695616A>G , CM000665.1:g.81695616A>G	GRCh37
NC_000003.10:g.81778306A>G	NCBI36
NG_011810.1:g.120336T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.709T>C MANE Select	ENSP00000410833.2:p.Leu237=
ENST00000429644.6:c.709T>C	ENSP00000410833.2:p.Leu237=
ENST00000489715.1:c.586T>C	ENSP00000419638.1:p.Leu196=
ENST00000498468.1:n.259T>C
NM_000158.3:c.709T>C	NP_000149.3:p.Leu237=
NM_000158.4:c.709T>C MANE Select	NP_000149.4:p.Leu237=