Canonical Allele Identifier: CA353688862
Gene: GBE1 HGNC NCBI

Linked Data

dbSNP Id: rs565408717
MyVariant Identifiers: chr3:g.81720012C>A (hg19) chr3:g.81670861C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81670861C>A , CM000665.2:g.81670861C>A GRCh38
NC_000003.11:g.81720012C>A , CM000665.1:g.81720012C>A GRCh37
NC_000003.10:g.81802702C>A NCBI36
NG_011810.1:g.95940G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.406G>T MANE Select ENSP00000410833.2:p.Val136Leu
ENST00000429644.6:c.406G>T ENSP00000410833.2:p.Val136Leu
ENST00000477426.1:n.122G>T
ENST00000489715.1:c.283G>T ENSP00000419638.1:p.Val95Leu
NM_000158.3:c.406G>T NP_000149.3:p.Val136Leu
NM_000158.4:c.406G>T MANE Select NP_000149.4:p.Val136Leu
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