Canonical Allele Identifier: CA353688142
Gene: GBE1 HGNC NCBI

Linked Data

dbSNP Id: rs868766244
gnomAD v2: 3-81695607-T-G
gnomAD v4: 3-81646456-T-G
MyVariant Identifiers: chr3:g.81695607T>G (hg19) chr3:g.81646456T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81646456T>G , CM000665.2:g.81646456T>G GRCh38
NC_000003.11:g.81695607T>G , CM000665.1:g.81695607T>G GRCh37
NC_000003.10:g.81778297T>G NCBI36
NG_011810.1:g.120345A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.718A>C MANE Select ENSP00000410833.2:p.Ile240Leu
ENST00000429644.6:c.718A>C ENSP00000410833.2:p.Ile240Leu
ENST00000489715.1:c.595A>C ENSP00000419638.1:p.Ile199Leu
ENST00000498468.1:n.268A>C
NM_000158.3:c.718A>C NP_000149.3:p.Ile240Leu
NM_000158.4:c.718A>C MANE Select NP_000149.4:p.Ile240Leu
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