Canonical Allele Identifier: CA1378760311
Gene: GBE1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81705636A= , CM000665.2:g.81705636A= GRCh38
NC_000003.11:g.81754787A= , CM000665.1:g.81754787A= GRCh37
NC_000003.10:g.81837477A= NCBI36
NG_011810.1:g.61165T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.144-23T= MANE Select ENSP00000410833.2:n.144-23T=
ENST00000429644.6:c.144-23T= ENSP00000410833.2:n.144-23T=
ENST00000489715.1:c.21-23T= ENSP00000419638.1:n.21-23T=
NM_000158.3:c.144-23T= NP_000149.3:n.144-23T=
NM_000158.4:c.144-23T= MANE Select NP_000149.4:n.144-23T=