Canonical Allele Identifier: CA1050114886
Gene: GBE1 HGNC NCBI

Linked Data

dbSNP Id: rs545487783
gnomAD v3: 3-81535434-T-G
gnomAD v4: 3-81535434-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81535434T>G , CM000665.2:g.81535434T>G GRCh38
NC_000003.11:g.81584585T>G , CM000665.1:g.81584585T>G GRCh37
NC_000003.10:g.81667275T>G NCBI36
NG_011810.1:g.231367A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.1804-109A>C MANE Select ENSP00000410833.2:n.1804-109A>C
ENST00000429644.6:c.1804-109A>C ENSP00000410833.2:n.1804-109A>C
ENST00000484687.1:n.205-109A>C
ENST00000489715.1:c.1681-109A>C ENSP00000419638.1:n.1681-109A>C
NM_000158.3:c.1804-109A>C NP_000149.3:n.1804-109A>C
NM_000158.4:c.1804-109A>C MANE Select NP_000149.4:n.1804-109A>C
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