Canonical Allele Identifier: CA2499555
Gene: GBE1 HGNC NCBI

Linked Data

dbSNP Id: rs749245519
ExAC: 3:81584516 T / C
gnomAD v2: 3-81584516-T-C
gnomAD v4: 3-81535365-T-C
MyVariant Identifiers: chr3:g.81584516T>C (hg19) chr3:g.81535365T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81535365T>C , CM000665.2:g.81535365T>C GRCh38
NC_000003.11:g.81584516T>C , CM000665.1:g.81584516T>C GRCh37
NC_000003.10:g.81667206T>C NCBI36
NG_011810.1:g.231436A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.1804-40A>G MANE Select ENSP00000410833.2:n.1804-40A>G
ENST00000429644.6:c.1804-40A>G ENSP00000410833.2:n.1804-40A>G
ENST00000484687.1:n.205-40A>G
ENST00000489715.1:c.1681-40A>G ENSP00000419638.1:n.1681-40A>G
NM_000158.3:c.1804-40A>G NP_000149.3:n.1804-40A>G
NM_000158.4:c.1804-40A>G MANE Select NP_000149.4:n.1804-40A>G
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