Canonical Allele Identifier: CA78292407
Gene: GBE1 HGNC NCBI

Linked Data

dbSNP Id: rs903799253
gnomAD v4: 3-81648778-C-G
MyVariant Identifiers: chr3:g.81697929C>G (hg19) chr3:g.81648778C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81648778C>G , CM000665.2:g.81648778C>G GRCh38
NC_000003.11:g.81697929C>G , CM000665.1:g.81697929C>G GRCh37
NC_000003.10:g.81780619C>G NCBI36
NG_011810.1:g.118023G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000429644.7:c.691+78G>C MANE Select ENSP00000410833.2:n.691+78G>C
ENST00000429644.6:c.691+78G>C ENSP00000410833.2:n.691+78G>C
ENST00000489715.1:c.568+78G>C ENSP00000419638.1:n.568+78G>C
ENST00000498468.1:n.219+78G>C
NM_000158.3:c.691+78G>C NP_000149.3:n.691+78G>C
NM_000158.4:c.691+78G>C MANE Select NP_000149.4:n.691+78G>C
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