Canonical Allele Identifier: CA1378730141

Gene: GBE1

Linked Data

• dbSNP Id: rs1704803643
• gnomAD v4: 3-81648773-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81648773A>G , CM000665.2:g.81648773A>G	GRCh38
NC_000003.11:g.81697924A>G , CM000665.1:g.81697924A>G	GRCh37
NC_000003.10:g.81780614A>G	NCBI36
NG_011810.1:g.118028T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000429644.7:c.691+83T>C MANE Select	ENSP00000410833.2:n.691+83T>C
ENST00000429644.6:c.691+83T>C	ENSP00000410833.2:n.691+83T>C
ENST00000489715.1:c.568+83T>C	ENSP00000419638.1:n.568+83T>C
ENST00000498468.1:n.219+83T>C
NM_000158.3:c.691+83T>C	NP_000149.3:n.691+83T>C
NM_000158.4:c.691+83T>C MANE Select	NP_000149.4:n.691+83T>C