Canonical Allele Identifier: CA434492152
Gene: GBE1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.81627086G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81577935G>C , CM000665.2:g.81577935G>C GRCh38
NC_000003.11:g.81627086G>C , CM000665.1:g.81627086G>C GRCh37
NC_000003.10:g.81709776G>C NCBI36
NG_011810.1:g.188866C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.1608C>G MANE Select ENSP00000410833.2:p.Leu536=
ENST00000429644.6:c.1608C>G ENSP00000410833.2:p.Leu536=
ENST00000484687.1:n.9C>G
ENST00000489715.1:c.1485C>G ENSP00000419638.1:p.Leu495=
NM_000158.3:c.1608C>G NP_000149.3:p.Leu536=
NM_000158.4:c.1608C>G MANE Select NP_000149.4:p.Leu536=