Canonical Allele Identifier: CA353687836

Gene: GBE1

Linked Data

• MyVariant Identifiers: chr3:g.81754702A>T (hg19) ; chr3:g.81705551A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81705551A>T , CM000665.2:g.81705551A>T	GRCh38
NC_000003.11:g.81754702A>T , CM000665.1:g.81754702A>T	GRCh37
NC_000003.10:g.81837392A>T	NCBI36
NG_011810.1:g.61250T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.206T>A MANE Select	ENSP00000410833.2:p.Phe69Tyr
ENST00000429644.6:c.206T>A	ENSP00000410833.2:p.Phe69Tyr
ENST00000489715.1:c.83T>A	ENSP00000419638.1:p.Phe28Tyr
NM_000158.3:c.206T>A	NP_000149.3:p.Phe69Tyr
NM_000158.4:c.206T>A MANE Select	NP_000149.4:p.Phe69Tyr