Canonical Allele Identifier: CA353688227
Gene: GBE1 HGNC NCBI

Linked Data

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

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

Transcript Alleles

HGVS Amino-acid change
ENST00000429644.7:c.684A>C MANE Select ENSP00000410833.2:p.Lys228Asn
ENST00000429644.6:c.684A>C ENSP00000410833.2:p.Lys228Asn
ENST00000489715.1:c.561A>C ENSP00000419638.1:p.Lys187Asn
ENST00000498468.1:n.212A>C
NM_000158.3:c.684A>C NP_000149.3:p.Lys228Asn
NM_000158.4:c.684A>C MANE Select NP_000149.4:p.Lys228Asn
Search 100 bp 5'
Search 100 bp 3'