Canonical Allele Identifier: CA412150511
Gene: MIOX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50489818C>A , CM000684.2:g.50489818C>A GRCh38
NC_000022.10:g.50928247C>A , CM000684.1:g.50928247C>A GRCh37
NC_000022.9:g.49275113C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000216075.11:c.820C>A MANE Select ENSP00000216075.6:p.Leu274Ile
ENST00000216075.10:c.820C>A ENSP00000216075.6:p.Leu274Ile
ENST00000395732.7:c.806C>A ENSP00000379081.3:p.Ala269Asp
ENST00000395733.7:c.689C>A ENSP00000379082.3:p.Ala230Asp
ENST00000451761.1:c.760C>A ENSP00000409894.1:p.Leu254Ile
NM_017584.5:c.820C>A NP_060054.4:p.Leu274Ile
XM_005261925.3:c.682C>A XP_005261982.1:p.Leu228Ile
XR_244455.2:n.3316C>A
XM_005261925.4:c.682C>A XP_005261982.1:p.Leu228Ile
NM_017584.6:c.820C>A MANE Select NP_060054.4:p.Leu274Ile