Canonical Allele Identifier: CA1378679310
Gene: GBE1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81535454T= , CM000665.2:g.81535454T= GRCh38
NC_000003.11:g.81584605T= , CM000665.1:g.81584605T= GRCh37
NC_000003.10:g.81667295T= NCBI36
NG_011810.1:g.231347A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.1804-129A= MANE Select ENSP00000410833.2:n.1804-129A=
ENST00000429644.6:c.1804-129A= ENSP00000410833.2:n.1804-129A=
ENST00000484687.1:n.205-129A=
ENST00000489715.1:c.1681-129A= ENSP00000419638.1:n.1681-129A=
NM_000158.3:c.1804-129A= NP_000149.3:n.1804-129A=
NM_000158.4:c.1804-129A= MANE Select NP_000149.4:n.1804-129A=