Canonical Allele Identifier: CA412150604

Gene: MIOX

Linked Data

• MyVariant Identifiers: chr22:g.50928257A>T (hg19) ; chr22:g.50489828A>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000216075.11:c.830A>T MANE Select	ENSP00000216075.6:p.Lys277Met
ENST00000216075.10:c.830A>T	ENSP00000216075.6:p.Lys277Met
ENST00000395732.7:c.*3A>T	ENSP00000379081.3:n.*3A>T
ENST00000395733.7:c.*3A>T	ENSP00000379082.3:n.*3A>T
ENST00000451761.1:c.770A>T	ENSP00000409894.1:p.Lys257Met
NM_017584.5:c.830A>T	NP_060054.4:p.Lys277Met
XM_005261925.3:c.692A>T	XP_005261982.1:p.Lys231Met
XR_244455.2:n.3326A>T
XM_005261925.4:c.692A>T	XP_005261982.1:p.Lys231Met
NM_017584.6:c.830A>T MANE Select	NP_060054.4:p.Lys277Met