Canonical Allele Identifier: CA353684596
Gene: GBE1 HGNC NCBI

Linked Data

gnomAD v4: 3-81577943-C-G
MyVariant Identifiers: chr3:g.81627094C>G (hg19) chr3:g.81577943C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81577943C>G , CM000665.2:g.81577943C>G GRCh38
NC_000003.11:g.81627094C>G , CM000665.1:g.81627094C>G GRCh37
NC_000003.10:g.81709784C>G NCBI36
NG_011810.1:g.188858G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.1600G>C MANE Select ENSP00000410833.2:p.Gly534Arg
ENST00000429644.6:c.1600G>C ENSP00000410833.2:p.Gly534Arg
ENST00000484687.1:n.1G>C
ENST00000489715.1:c.1477G>C ENSP00000419638.1:p.Gly493Arg
NM_000158.3:c.1600G>C NP_000149.3:p.Gly534Arg
NM_000158.4:c.1600G>C MANE Select NP_000149.4:p.Gly534Arg
Search 100 bp 5'
Search 100 bp 3'