Canonical Allele Identifier: CA412150586
Gene: MIOX HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.50928255C>G (hg19) chr22:g.50489826C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50489826C>G , CM000684.2:g.50489826C>G GRCh38
NC_000022.10:g.50928255C>G , CM000684.1:g.50928255C>G GRCh37
NC_000022.9:g.49275121C>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000216075.11:c.828C>G MANE Select ENSP00000216075.6:p.Asp276Glu
ENST00000216075.10:c.828C>G ENSP00000216075.6:p.Asp276Glu
ENST00000395732.7:c.*1C>G ENSP00000379081.3:n.*1C>G
ENST00000395733.7:c.*1C>G ENSP00000379082.3:n.*1C>G
ENST00000451761.1:c.768C>G ENSP00000409894.1:p.Asp256Glu
NM_017584.5:c.828C>G NP_060054.4:p.Asp276Glu
XM_005261925.3:c.690C>G XP_005261982.1:p.Asp230Glu
XR_244455.2:n.3324C>G
XM_005261925.4:c.690C>G XP_005261982.1:p.Asp230Glu
NM_017584.6:c.828C>G MANE Select NP_060054.4:p.Asp276Glu
Search 100 bp 5'
Search 100 bp 3'