Canonical Allele Identifier: CA2577825889
Gene: GBE1 HGNC NCBI

Linked Data

gnomAD v4: 3-81648783-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81648783G>T , CM000665.2:g.81648783G>T GRCh38
NC_000003.11:g.81697934G>T , CM000665.1:g.81697934G>T GRCh37
NC_000003.10:g.81780624G>T NCBI36
NG_011810.1:g.118018C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000429644.7:c.691+73C>A MANE Select ENSP00000410833.2:n.691+73C>A
ENST00000429644.6:c.691+73C>A ENSP00000410833.2:n.691+73C>A
ENST00000489715.1:c.568+73C>A ENSP00000419638.1:n.568+73C>A
ENST00000498468.1:n.219+73C>A
NM_000158.3:c.691+73C>A NP_000149.3:n.691+73C>A
NM_000158.4:c.691+73C>A MANE Select NP_000149.4:n.691+73C>A
Search 100 bp 5'
Search 100 bp 3'