Canonical Allele Identifier: CA353689010
Gene: GBE1 HGNC NCBI

Linked Data

dbSNP Id: rs1705180421
gnomAD v4: 3-81670929-G-A
MyVariant Identifiers: chr3:g.81720080G>A (hg19) chr3:g.81670929G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81670929G>A , CM000665.2:g.81670929G>A GRCh38
NC_000003.11:g.81720080G>A , CM000665.1:g.81720080G>A GRCh37
NC_000003.10:g.81802770G>A NCBI36
NG_011810.1:g.95872C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.338C>T MANE Select ENSP00000410833.2:p.Pro113Leu
ENST00000429644.6:c.338C>T ENSP00000410833.2:p.Pro113Leu
ENST00000477426.1:n.54C>T
ENST00000489715.1:c.215C>T ENSP00000419638.1:p.Pro72Leu
NM_000158.3:c.338C>T NP_000149.3:p.Pro113Leu
NM_000158.4:c.338C>T MANE Select NP_000149.4:p.Pro113Leu
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