Canonical Allele Identifier: CA353684747
Gene: GBE1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.81627168A>G (hg19) chr3:g.81578017A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81578017A>G , CM000665.2:g.81578017A>G GRCh38
NC_000003.11:g.81627168A>G , CM000665.1:g.81627168A>G GRCh37
NC_000003.10:g.81709858A>G NCBI36
NG_011810.1:g.188784T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.1526T>C MANE Select ENSP00000410833.2:p.Phe509Ser
ENST00000429644.6:c.1526T>C ENSP00000410833.2:p.Phe509Ser
ENST00000489715.1:c.1403T>C ENSP00000419638.1:p.Phe468Ser
NM_000158.3:c.1526T>C NP_000149.3:p.Phe509Ser
NM_000158.4:c.1526T>C MANE Select NP_000149.4:p.Phe509Ser
Search 100 bp 5'
Search 100 bp 3'