Canonical Allele Identifier: CA434496927
Gene: GBE1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.81720022T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81670871T>C , CM000665.2:g.81670871T>C GRCh38
NC_000003.11:g.81720022T>C , CM000665.1:g.81720022T>C GRCh37
NC_000003.10:g.81802712T>C NCBI36
NG_011810.1:g.95930A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.396A>G MANE Select ENSP00000410833.2:p.Lys132=
ENST00000429644.6:c.396A>G ENSP00000410833.2:p.Lys132=
ENST00000477426.1:n.112A>G
ENST00000489715.1:c.273A>G ENSP00000419638.1:p.Lys91=
NM_000158.3:c.396A>G NP_000149.3:p.Lys132=
NM_000158.4:c.396A>G MANE Select NP_000149.4:p.Lys132=