Canonical Allele Identifier: CA2499985
Gene: GBE1 HGNC NCBI

Linked Data

dbSNP Id: rs752557522
ExAC: 3:81720024 T / G
gnomAD v2: 3-81720024-T-G
gnomAD v4: 3-81670873-T-G
MyVariant Identifiers: chr3:g.81720024T>G (hg19) chr3:g.81670873T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81670873T>G , CM000665.2:g.81670873T>G GRCh38
NC_000003.11:g.81720024T>G , CM000665.1:g.81720024T>G GRCh37
NC_000003.10:g.81802714T>G NCBI36
NG_011810.1:g.95928A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.394A>C MANE Select ENSP00000410833.2:p.Lys132Gln
ENST00000429644.6:c.394A>C ENSP00000410833.2:p.Lys132Gln
ENST00000477426.1:n.110A>C
ENST00000489715.1:c.271A>C ENSP00000419638.1:p.Lys91Gln
NM_000158.3:c.394A>C NP_000149.3:p.Lys132Gln
NM_000158.4:c.394A>C MANE Select NP_000149.4:p.Lys132Gln
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