Canonical Allele Identifier: CA2666624043

Gene: GBE1

Linked Data

• gnomAD v4: 3-81648764-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81648764A>C , CM000665.2:g.81648764A>C	GRCh38
NC_000003.11:g.81697915A>C , CM000665.1:g.81697915A>C	GRCh37
NC_000003.10:g.81780605A>C	NCBI36
NG_011810.1:g.118037T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000429644.7:c.691+92T>G MANE Select	ENSP00000410833.2:n.691+92T>G
ENST00000429644.6:c.691+92T>G	ENSP00000410833.2:n.691+92T>G
ENST00000489715.1:c.568+92T>G	ENSP00000419638.1:n.568+92T>G
ENST00000498468.1:n.219+92T>G
NM_000158.3:c.691+92T>G	NP_000149.3:n.691+92T>G
NM_000158.4:c.691+92T>G MANE Select	NP_000149.4:n.691+92T>G