Canonical Allele Identifier: CA1378743429
Gene: GBE1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81670926T= , CM000665.2:g.81670926T= GRCh38
NC_000003.11:g.81720077T= , CM000665.1:g.81720077T= GRCh37
NC_000003.10:g.81802767T= NCBI36
NG_011810.1:g.95875A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.341A= MANE Select ENSP00000410833.2:p.Tyr114=
ENST00000429644.6:c.341A= ENSP00000410833.2:p.Tyr114=
ENST00000477426.1:n.57A=
ENST00000489715.1:c.218A= ENSP00000419638.1:p.Tyr73=
NM_000158.3:c.341A= NP_000149.3:p.Tyr114=
NM_000158.4:c.341A= MANE Select NP_000149.4:p.Tyr114=