Canonical Allele Identifier: CA1378679329
Gene: GBE1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81535499A= , CM000665.2:g.81535499A= GRCh38
NC_000003.11:g.81584650A= , CM000665.1:g.81584650A= GRCh37
NC_000003.10:g.81667340A= NCBI36
NG_011810.1:g.231302T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.1804-174T= MANE Select ENSP00000410833.2:n.1804-174T=
ENST00000429644.6:c.1804-174T= ENSP00000410833.2:n.1804-174T=
ENST00000484687.1:n.205-174T=
ENST00000489715.1:c.1681-174T= ENSP00000419638.1:n.1681-174T=
NM_000158.3:c.1804-174T= NP_000149.3:n.1804-174T=
NM_000158.4:c.1804-174T= MANE Select NP_000149.4:n.1804-174T=