Canonical Allele Identifier: CA412150608

Gene: MIOX

Linked Data

• dbSNP Id: rs924258631
• gnomAD v2: 22-50928258-G-T
• gnomAD v4: 22-50489829-G-T
• MyVariant Identifiers: chr22:g.50928258G>T (hg19) ; chr22:g.50489829G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50489829G>T , CM000684.2:g.50489829G>T	GRCh38
NC_000022.10:g.50928258G>T , CM000684.1:g.50928258G>T	GRCh37
NC_000022.9:g.49275124G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216075.11:c.831G>T MANE Select	ENSP00000216075.6:p.Lys277Asn
ENST00000216075.10:c.831G>T	ENSP00000216075.6:p.Lys277Asn
ENST00000395732.7:c.*4G>T	ENSP00000379081.3:n.*4G>T
ENST00000395733.7:c.*4G>T	ENSP00000379082.3:n.*4G>T
ENST00000451761.1:c.771G>T	ENSP00000409894.1:p.Lys257Asn
NM_017584.5:c.831G>T	NP_060054.4:p.Lys277Asn
XM_005261925.3:c.693G>T	XP_005261982.1:p.Lys231Asn
XR_244455.2:n.3327G>T
XM_005261925.4:c.693G>T	XP_005261982.1:p.Lys231Asn
NM_017584.6:c.831G>T MANE Select	NP_060054.4:p.Lys277Asn