Canonical Allele Identifier: CA412150601
Gene: MIOX HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.50928257A>G (hg19) chr22:g.50489828A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50489828A>G , CM000684.2:g.50489828A>G GRCh38
NC_000022.10:g.50928257A>G , CM000684.1:g.50928257A>G GRCh37
NC_000022.9:g.49275123A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000216075.11:c.830A>G MANE Select ENSP00000216075.6:p.Lys277Arg
ENST00000216075.10:c.830A>G ENSP00000216075.6:p.Lys277Arg
ENST00000395732.7:c.*3A>G ENSP00000379081.3:n.*3A>G
ENST00000395733.7:c.*3A>G ENSP00000379082.3:n.*3A>G
ENST00000451761.1:c.770A>G ENSP00000409894.1:p.Lys257Arg
NM_017584.5:c.830A>G NP_060054.4:p.Lys277Arg
XM_005261925.3:c.692A>G XP_005261982.1:p.Lys231Arg
XR_244455.2:n.3326A>G
XM_005261925.4:c.692A>G XP_005261982.1:p.Lys231Arg
NM_017584.6:c.830A>G MANE Select NP_060054.4:p.Lys277Arg
Search 100 bp 5'
Search 100 bp 3'