Canonical Allele Identifier: CA353684695
Gene: GBE1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.81627142G>A (hg19) chr3:g.81577991G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81577991G>A , CM000665.2:g.81577991G>A GRCh38
NC_000003.11:g.81627142G>A , CM000665.1:g.81627142G>A GRCh37
NC_000003.10:g.81709832G>A NCBI36
NG_011810.1:g.188810C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000429644.7:c.1552C>T MANE Select ENSP00000410833.2:p.Gln518Ter
ENST00000429644.6:c.1552C>T ENSP00000410833.2:p.Gln518Ter
ENST00000489715.1:c.1429C>T ENSP00000419638.1:p.Gln477Ter
NM_000158.3:c.1552C>T NP_000149.3:p.Gln518Ter
NM_000158.4:c.1552C>T MANE Select NP_000149.4:p.Gln518Ter
Search 100 bp 5'
Search 100 bp 3'