Canonical Allele Identifier: CA353684546
Gene: GBE1 HGNC NCBI

Linked Data

gnomAD v4: 3-81577923-A-C
MyVariant Identifiers: chr3:g.81627074A>C (hg19) chr3:g.81577923A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81577923A>C , CM000665.2:g.81577923A>C GRCh38
NC_000003.11:g.81627074A>C , CM000665.1:g.81627074A>C GRCh37
NC_000003.10:g.81709764A>C NCBI36
NG_011810.1:g.188878T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000429644.7:c.1618+2T>G MANE Select ENSP00000410833.2:n.1618+2T>G
ENST00000429644.6:c.1618+2T>G ENSP00000410833.2:n.1618+2T>G
ENST00000484687.1:n.19+2T>G
ENST00000489715.1:c.1495+2T>G ENSP00000419638.1:n.1495+2T>G
NM_000158.3:c.1618+2T>G NP_000149.3:n.1618+2T>G
NM_000158.4:c.1618+2T>G MANE Select NP_000149.4:n.1618+2T>G
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