Canonical Allele Identifier: CA2499625

Gene: GBE1

Linked Data

• dbSNP Id: rs748484690
• ExAC: 3:81627128 C / A
• gnomAD v2: 3-81627128-C-A
• gnomAD v3: 3-81577977-C-A
• gnomAD v4: 3-81577977-C-A
• MyVariant Identifiers: chr3:g.81627128C>A (hg19) ; chr3:g.81577977C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81577977C>A , CM000665.2:g.81577977C>A	GRCh38
NC_000003.11:g.81627128C>A , CM000665.1:g.81627128C>A	GRCh37
NC_000003.10:g.81709818C>A	NCBI36
NG_011810.1:g.188824G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.1566G>T MANE Select	ENSP00000410833.2:p.Met522Ile
ENST00000429644.6:c.1566G>T	ENSP00000410833.2:p.Met522Ile
ENST00000489715.1:c.1443G>T	ENSP00000419638.1:p.Met481Ile
NM_000158.3:c.1566G>T	NP_000149.3:p.Met522Ile
NM_000158.4:c.1566G>T MANE Select	NP_000149.4:p.Met522Ile