Canonical Allele Identifier: CA2499810
Gene: GBE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 478912
ClinVar RCV Id: RCV000560920
dbSNP Id: rs763016962
ExAC: 3:81643175 C / A
gnomAD v2: 3-81643175-C-A
gnomAD v3: 3-81594024-C-A
gnomAD v4: 3-81594024-C-A
MyVariant Identifiers: chr3:g.81643175C>A (hg19) chr3:g.81594024C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81594024C>A , CM000665.2:g.81594024C>A GRCh38
NC_000003.11:g.81643175C>A , CM000665.1:g.81643175C>A GRCh37
NC_000003.10:g.81725865C>A NCBI36
NG_011810.1:g.172777G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000429644.7:c.993-1G>T MANE Select ENSP00000410833.2:n.993-1G>T
ENST00000429644.6:c.993-1G>T ENSP00000410833.2:n.993-1G>T
ENST00000489715.1:c.870-1G>T ENSP00000419638.1:n.870-1G>T
NM_000158.3:c.993-1G>T NP_000149.3:n.993-1G>T
NM_000158.4:c.993-1G>T MANE Select NP_000149.4:n.993-1G>T
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