Canonical Allele Identifier: CA1378760162

Gene: GBE1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81705539T= , CM000665.2:g.81705539T=	GRCh38
NC_000003.11:g.81754690T= , CM000665.1:g.81754690T=	GRCh37
NC_000003.10:g.81837380T=	NCBI36
NG_011810.1:g.61262A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.218A= MANE Select	ENSP00000410833.2:p.Tyr73=
ENST00000429644.6:c.218A=	ENSP00000410833.2:p.Tyr73=
ENST00000489715.1:c.95A=	ENSP00000419638.1:p.Tyr32=
NM_000158.3:c.218A=	NP_000149.3:p.Tyr73=
NM_000158.4:c.218A= MANE Select	NP_000149.4:p.Tyr73=