Canonical Allele Identifier: CA1378760364
Gene: GBE1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81705715G= , CM000665.2:g.81705715G= GRCh38
NC_000003.11:g.81754866G= , CM000665.1:g.81754866G= GRCh37
NC_000003.10:g.81837556G= NCBI36
NG_011810.1:g.61086C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.144-102C= MANE Select ENSP00000410833.2:n.144-102C=
ENST00000429644.6:c.144-102C= ENSP00000410833.2:n.144-102C=
ENST00000489715.1:c.21-102C= ENSP00000419638.1:n.21-102C=
NM_000158.3:c.144-102C= NP_000149.3:n.144-102C=
NM_000158.4:c.144-102C= MANE Select NP_000149.4:n.144-102C=