Canonical Allele Identifier: CA353688226
Gene: GBE1 HGNC NCBI

Linked Data

gnomAD v4: 3-81648863-T-A
MyVariant Identifiers: chr3:g.81698014T>A (hg19) chr3:g.81648863T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81648863T>A , CM000665.2:g.81648863T>A GRCh38
NC_000003.11:g.81698014T>A , CM000665.1:g.81698014T>A GRCh37
NC_000003.10:g.81780704T>A NCBI36
NG_011810.1:g.117938A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000429644.7:c.684A>T MANE Select ENSP00000410833.2:p.Lys228Asn
ENST00000429644.6:c.684A>T ENSP00000410833.2:p.Lys228Asn
ENST00000489715.1:c.561A>T ENSP00000419638.1:p.Lys187Asn
ENST00000498468.1:n.212A>T
NM_000158.3:c.684A>T NP_000149.3:p.Lys228Asn
NM_000158.4:c.684A>T MANE Select NP_000149.4:p.Lys228Asn
Search 100 bp 5'
Search 100 bp 3'