Canonical Allele Identifier: CA2499989
Gene: GBE1 HGNC NCBI

Linked Data

dbSNP Id: rs756747975
ExAC: 3:81720042 T / C
gnomAD v2: 3-81720042-T-C
gnomAD v4: 3-81670891-T-C
MyVariant Identifiers: chr3:g.81720042T>C (hg19) chr3:g.81670891T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81670891T>C , CM000665.2:g.81670891T>C GRCh38
NC_000003.11:g.81720042T>C , CM000665.1:g.81720042T>C GRCh37
NC_000003.10:g.81802732T>C NCBI36
NG_011810.1:g.95910A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.376A>G MANE Select ENSP00000410833.2:p.Ile126Val
ENST00000429644.6:c.376A>G ENSP00000410833.2:p.Ile126Val
ENST00000477426.1:n.92A>G
ENST00000489715.1:c.253A>G ENSP00000419638.1:p.Ile85Val
NM_000158.3:c.376A>G NP_000149.3:p.Ile126Val
NM_000158.4:c.376A>G MANE Select NP_000149.4:p.Ile126Val
Search 100 bp 5'
Search 100 bp 3'