Canonical Allele Identifier: CA434496919
Gene: GBE1 HGNC NCBI

Linked Data

COSMIC: COSM4880926 COSM4880927
MyVariant Identifiers: chr3:g.81720013G>C (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81670862G>C , CM000665.2:g.81670862G>C GRCh38
NC_000003.11:g.81720013G>C , CM000665.1:g.81720013G>C GRCh37
NC_000003.10:g.81802703G>C NCBI36
NG_011810.1:g.95939C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.405C>G MANE Select ENSP00000410833.2:p.Leu135=
ENST00000429644.6:c.405C>G ENSP00000410833.2:p.Leu135=
ENST00000477426.1:n.121C>G
ENST00000489715.1:c.282C>G ENSP00000419638.1:p.Leu94=
NM_000158.3:c.405C>G NP_000149.3:p.Leu135=
NM_000158.4:c.405C>G MANE Select NP_000149.4:p.Leu135=
Search 100 bp 5'
Search 100 bp 3'