Canonical Allele Identifier: CA911024010

Gene: GBE1

Linked Data

• dbSNP Id: rs1458747917
• gnomAD v2: 3-81698332-A-G
• gnomAD v3: 3-81649181-A-G
• gnomAD v4: 3-81649181-A-G
• MyVariant Identifiers: chr3:g.81698332A>G (hg19) ; chr3:g.81649181A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81649181A>G , CM000665.2:g.81649181A>G	GRCh38
NC_000003.11:g.81698332A>G , CM000665.1:g.81698332A>G	GRCh37
NC_000003.10:g.81781022A>G	NCBI36
NG_011810.1:g.117620T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.556-190T>C MANE Select	ENSP00000410833.2:n.556-190T>C
ENST00000429644.6:c.556-190T>C	ENSP00000410833.2:n.556-190T>C
ENST00000486920.1:n.552-190T>C
ENST00000489715.1:c.433-190T>C	ENSP00000419638.1:n.433-190T>C
ENST00000498468.1:n.84-190T>C
NM_000158.3:c.556-190T>C	NP_000149.3:n.556-190T>C
NM_000158.4:c.556-190T>C MANE Select	NP_000149.4:n.556-190T>C