Canonical Allele Identifier: CA2666624051
Gene: GBE1 HGNC NCBI

Linked Data

gnomAD v4: 3-81648784-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81648784T>A , CM000665.2:g.81648784T>A GRCh38
NC_000003.11:g.81697935T>A , CM000665.1:g.81697935T>A GRCh37
NC_000003.10:g.81780625T>A NCBI36
NG_011810.1:g.118017A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000429644.7:c.691+72A>T MANE Select ENSP00000410833.2:n.691+72A>T
ENST00000429644.6:c.691+72A>T ENSP00000410833.2:n.691+72A>T
ENST00000489715.1:c.568+72A>T ENSP00000419638.1:n.568+72A>T
ENST00000498468.1:n.219+72A>T
NM_000158.3:c.691+72A>T NP_000149.3:n.691+72A>T
NM_000158.4:c.691+72A>T MANE Select NP_000149.4:n.691+72A>T
Search 100 bp 5'
Search 100 bp 3'