Canonical Allele Identifier: CA353688175

Gene: GBE1

Linked Data

• dbSNP Id: rs1704765058
• MyVariant Identifiers: chr3:g.81695622T>C (hg19) ; chr3:g.81646471T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81646471T>C , CM000665.2:g.81646471T>C	GRCh38
NC_000003.11:g.81695622T>C , CM000665.1:g.81695622T>C	GRCh37
NC_000003.10:g.81778312T>C	NCBI36
NG_011810.1:g.120330A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000429644.7:c.703A>G MANE Select	ENSP00000410833.2:p.Ile235Val
ENST00000429644.6:c.703A>G	ENSP00000410833.2:p.Ile235Val
ENST00000489715.1:c.580A>G	ENSP00000419638.1:p.Ile194Val
ENST00000498468.1:n.253A>G
NM_000158.3:c.703A>G	NP_000149.3:p.Ile235Val
NM_000158.4:c.703A>G MANE Select	NP_000149.4:p.Ile235Val