Canonical Allele Identifier: CA412150623
Gene: MIOX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50489831A>C , CM000684.2:g.50489831A>C GRCh38
NC_000022.10:g.50928260A>C , CM000684.1:g.50928260A>C GRCh37
NC_000022.9:g.49275126A>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000216075.11:c.833A>C MANE Select ENSP00000216075.6:p.Tyr278Ser
ENST00000216075.10:c.833A>C ENSP00000216075.6:p.Tyr278Ser
ENST00000395732.7:c.*6A>C ENSP00000379081.3:n.*6A>C
ENST00000395733.7:c.*6A>C ENSP00000379082.3:n.*6A>C
ENST00000451761.1:c.773A>C ENSP00000409894.1:p.Tyr258Ser
NM_017584.5:c.833A>C NP_060054.4:p.Tyr278Ser
XM_005261925.3:c.695A>C XP_005261982.1:p.Tyr232Ser
XR_244455.2:n.3329A>C
XM_005261925.4:c.695A>C XP_005261982.1:p.Tyr232Ser
NM_017584.6:c.833A>C MANE Select NP_060054.4:p.Tyr278Ser