Canonical Allele Identifier: CA434495783
Gene: GBE1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.81754668T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81705517T>C , CM000665.2:g.81705517T>C GRCh38
NC_000003.11:g.81754668T>C , CM000665.1:g.81754668T>C GRCh37
NC_000003.10:g.81837358T>C NCBI36
NG_011810.1:g.61284A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.240A>G MANE Select ENSP00000410833.2:p.Arg80=
ENST00000429644.6:c.240A>G ENSP00000410833.2:p.Arg80=
ENST00000489715.1:c.117A>G ENSP00000419638.1:p.Arg39=
NM_000158.3:c.240A>G NP_000149.3:p.Arg80=
NM_000158.4:c.240A>G MANE Select NP_000149.4:p.Arg80=