Canonical Allele Identifier: CA2657564231
Gene: MIOX HGNC NCBI

Linked Data

gnomAD v4: 22-50489929-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50489929C>A , CM000684.2:g.50489929C>A GRCh38
NC_000022.10:g.50928358C>A , CM000684.1:g.50928358C>A GRCh37
NC_000022.9:g.49275224C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000216075.11:c.*73C>A MANE Select ENSP00000216075.6:n.*73C>A
ENST00000216075.10:c.*73C>A ENSP00000216075.6:n.*73C>A
ENST00000395732.7:c.*104C>A ENSP00000379081.3:n.*104C>A
ENST00000395733.7:c.*104C>A ENSP00000379082.3:n.*104C>A
ENST00000451761.1:c.871C>A ENSP00000409894.1:n.871C>A
NM_017584.5:c.*73C>A NP_060054.4:n.*73C>A
XM_005261925.3:c.*73C>A XP_005261982.1:n.*73C>A
XR_244455.2:n.3427C>A
XM_005261925.4:c.*73C>A XP_005261982.1:n.*73C>A
NM_017584.6:c.*73C>A MANE Select NP_060054.4:n.*73C>A
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