Canonical Allele Identifier: CA2499775

Gene: GBE1

Linked Data

• ClinVar Variation Id: 444613
• ClinVar RCV Id: RCV000513273 ; RCV000666996 ; RCV001080686 ; RCV001149393 ; RCV004535652
• dbSNP Id: rs36099971
• ExAC: 3:81640290 A / C
• gnomAD v2: 3-81640290-A-C
• gnomAD v3: 3-81591139-A-C
• gnomAD v4: 3-81591139-A-C
• MyVariant Identifiers: chr3:g.81640290A>C (hg19) ; chr3:g.81591139A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81591139A>C , CM000665.2:g.81591139A>C	GRCh38
NC_000003.11:g.81640290A>C , CM000665.1:g.81640290A>C	GRCh37
NC_000003.10:g.81722980A>C	NCBI36
NG_011810.1:g.175662T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.1134T>G MANE Select	ENSP00000410833.2:p.Ser378Arg
ENST00000429644.6:c.1134T>G	ENSP00000410833.2:p.Ser378Arg
ENST00000489715.1:c.1011T>G	ENSP00000419638.1:p.Ser337Arg
NM_000158.3:c.1134T>G	NP_000149.3:p.Ser378Arg
NM_000158.4:c.1134T>G MANE Select	NP_000149.4:p.Ser378Arg