Canonical Allele Identifier: CA353688213

Gene: GBE1

Linked Data

• gnomAD v4: 3-81648856-C-A
• MyVariant Identifiers: chr3:g.81698007C>A (hg19) ; chr3:g.81648856C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81648856C>A , CM000665.2:g.81648856C>A	GRCh38
NC_000003.11:g.81698007C>A , CM000665.1:g.81698007C>A	GRCh37
NC_000003.10:g.81780697C>A	NCBI36
NG_011810.1:g.117945G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000429644.7:c.691G>T MANE Select	ENSP00000410833.2:p.Gly231Ter
ENST00000429644.6:c.691G>T	ENSP00000410833.2:p.Gly231Ter
ENST00000489715.1:c.568G>T	ENSP00000419638.1:p.Gly190Ter
ENST00000498468.1:n.219G>T
NM_000158.3:c.691G>T	NP_000149.3:p.Gly231Ter
NM_000158.4:c.691G>T MANE Select	NP_000149.4:p.Gly231Ter