Canonical Allele Identifier: CA2499874

Gene: GBE1

Linked Data

• ClinVar Variation Id: 346793
• ClinVar RCV Id: RCV000272591 ; RCV000329970 ; RCV004530401 ; RCV002523458
• dbSNP Id: rs747155575
• ExAC: 3:81695604 T / C
• gnomAD v2: 3-81695604-T-C
• gnomAD v3: 3-81646453-T-C
• gnomAD v4: 3-81646453-T-C
• MyVariant Identifiers: chr3:g.81695604T>C (hg19) ; chr3:g.81646453T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81646453T>C , CM000665.2:g.81646453T>C	GRCh38
NC_000003.11:g.81695604T>C , CM000665.1:g.81695604T>C	GRCh37
NC_000003.10:g.81778294T>C	NCBI36
NG_011810.1:g.120348A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.721A>G MANE Select	ENSP00000410833.2:p.Met241Val
ENST00000429644.6:c.721A>G	ENSP00000410833.2:p.Met241Val
ENST00000489715.1:c.598A>G	ENSP00000419638.1:p.Met200Val
ENST00000498468.1:n.271A>G
NM_000158.3:c.721A>G	NP_000149.3:p.Met241Val
NM_000158.4:c.721A>G MANE Select	NP_000149.4:p.Met241Val