Canonical Allele Identifier: CA2499552

Gene: GBE1

Linked Data

• ClinVar Variation Id: 1673039
• ClinVar RCV Id: RCV002201906
• dbSNP Id: rs751552216
• ExAC: 3:81584496 T / C
• gnomAD v2: 3-81584496-T-C
• gnomAD v3: 3-81535345-T-C
• gnomAD v4: 3-81535345-T-C
• MyVariant Identifiers: chr3:g.81584496T>C (hg19) ; chr3:g.81535345T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81535345T>C , CM000665.2:g.81535345T>C	GRCh38
NC_000003.11:g.81584496T>C , CM000665.1:g.81584496T>C	GRCh37
NC_000003.10:g.81667186T>C	NCBI36
NG_011810.1:g.231456A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.1804-20A>G MANE Select	ENSP00000410833.2:n.1804-20A>G
ENST00000429644.6:c.1804-20A>G	ENSP00000410833.2:n.1804-20A>G
ENST00000484687.1:n.205-20A>G
ENST00000489715.1:c.1681-20A>G	ENSP00000419638.1:n.1681-20A>G
NM_000158.3:c.1804-20A>G	NP_000149.3:n.1804-20A>G
NM_000158.4:c.1804-20A>G MANE Select	NP_000149.4:n.1804-20A>G