Canonical Allele Identifier: CA353687789
Gene: GBE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1402025
ClinVar RCV Id: RCV001913303
dbSNP Id: rs1267044758
MyVariant Identifiers: chr3:g.81754681A>G (hg19) chr3:g.81705530A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81705530A>G , CM000665.2:g.81705530A>G GRCh38
NC_000003.11:g.81754681A>G , CM000665.1:g.81754681A>G GRCh37
NC_000003.10:g.81837371A>G NCBI36
NG_011810.1:g.61271T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.227T>C MANE Select ENSP00000410833.2:p.Phe76Ser
ENST00000429644.6:c.227T>C ENSP00000410833.2:p.Phe76Ser
ENST00000489715.1:c.104T>C ENSP00000419638.1:p.Phe35Ser
NM_000158.3:c.227T>C NP_000149.3:p.Phe76Ser
NM_000158.4:c.227T>C MANE Select NP_000149.4:p.Phe76Ser
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