Canonical Allele Identifier: CA353687753

Gene: GBE1

Linked Data

• MyVariant Identifiers: chr3:g.81754665A>T (hg19) ; chr3:g.81705514A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81705514A>T , CM000665.2:g.81705514A>T	GRCh38
NC_000003.11:g.81754665A>T , CM000665.1:g.81754665A>T	GRCh37
NC_000003.10:g.81837355A>T	NCBI36
NG_011810.1:g.61287T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.243T>A MANE Select	ENSP00000410833.2:p.Cys81Ter
ENST00000429644.6:c.243T>A	ENSP00000410833.2:p.Cys81Ter
ENST00000489715.1:c.120T>A	ENSP00000419638.1:p.Cys40Ter
NM_000158.3:c.243T>A	NP_000149.3:p.Cys81Ter
NM_000158.4:c.243T>A MANE Select	NP_000149.4:p.Cys81Ter