Canonical Allele Identifier: CA911021884

Gene: GBE1

Linked Data

• dbSNP Id: rs1374865277
• MyVariant Identifiers: chr3:g.81695472A>T (hg19) ; chr3:g.81646321A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81646321A>T , CM000665.2:g.81646321A>T	GRCh38
NC_000003.11:g.81695472A>T , CM000665.1:g.81695472A>T	GRCh37
NC_000003.10:g.81778162A>T	NCBI36
NG_011810.1:g.120480T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.782+71T>A MANE Select	ENSP00000410833.2:n.782+71T>A
ENST00000429644.6:c.782+71T>A	ENSP00000410833.2:n.782+71T>A
ENST00000489715.1:c.659+71T>A	ENSP00000419638.1:n.659+71T>A
ENST00000498468.1:n.332+71T>A
NM_000158.3:c.782+71T>A	NP_000149.3:n.782+71T>A
NM_000158.4:c.782+71T>A MANE Select	NP_000149.4:n.782+71T>A