Canonical Allele Identifier: CA544279048
Gene: GBE1 HGNC NCBI

Linked Data

dbSNP Id: rs1319437168
gnomAD v2: 3-81584691-C-T
gnomAD v3: 3-81535540-C-T
gnomAD v4: 3-81535540-C-T
MyVariant Identifiers: chr3:g.81584691C>T (hg19) chr3:g.81535540C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81535540C>T , CM000665.2:g.81535540C>T GRCh38
NC_000003.11:g.81584691C>T , CM000665.1:g.81584691C>T GRCh37
NC_000003.10:g.81667381C>T NCBI36
NG_011810.1:g.231261G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.1804-215G>A MANE Select ENSP00000410833.2:n.1804-215G>A
ENST00000429644.6:c.1804-215G>A ENSP00000410833.2:n.1804-215G>A
ENST00000484687.1:n.205-215G>A
ENST00000489715.1:c.1681-215G>A ENSP00000419638.1:n.1681-215G>A
NM_000158.3:c.1804-215G>A NP_000149.3:n.1804-215G>A
NM_000158.4:c.1804-215G>A MANE Select NP_000149.4:n.1804-215G>A
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