Canonical Allele Identifier: CA353687584
Gene: GBE1 HGNC NCBI

Linked Data

gnomAD v4: 3-81642989-G-T
MyVariant Identifiers: chr3:g.81692140G>T (hg19) chr3:g.81642989G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81642989G>T , CM000665.2:g.81642989G>T GRCh38
NC_000003.11:g.81692140G>T , CM000665.1:g.81692140G>T GRCh37
NC_000003.10:g.81774830G>T NCBI36
NG_011810.1:g.123812C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000429644.7:c.784C>A MANE Select ENSP00000410833.2:p.Arg262Ser
ENST00000429644.6:c.784C>A ENSP00000410833.2:p.Arg262Ser
ENST00000489715.1:c.661C>A ENSP00000419638.1:p.Arg221Ser
ENST00000498468.1:n.334C>A
NM_000158.3:c.784C>A NP_000149.3:p.Arg262Ser
NM_000158.4:c.784C>A MANE Select NP_000149.4:p.Arg262Ser
Search 100 bp 5'
Search 100 bp 3'