Canonical Allele Identifier: CA14970983
Gene: MIOX HGNC NCBI
MyVariant.info:
GRCh38 chr22:g.50489911G>C
GRCh37 chr22:g.50928340G>C
gnomAD v2:
22:50928340 G / C
gnomAD v3:
22:50489911 G / C
gnomAD v4:
chr22-50489911-G-C
Joint Max Group AF 0.35689675 (NFE)
Genomes Max Group AF 0.35016119 (NFE)
Exomes Max Group AF 0.35712087 (NFE)
dbSNP:
1055271
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50489911G>C , CM000684.2:g.50489911G>C GRCh38
NC_000022.10:g.50928340G>C , CM000684.1:g.50928340G>C GRCh37
NC_000022.9:g.49275206G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000216075.11:c.*55G>C MANE Select ENSP00000216075.6:n.*55G>C
ENST00000216075.10:c.*55G>C ENSP00000216075.6:n.*55G>C
ENST00000395732.7:c.*86G>C ENSP00000379081.3:n.*86G>C
ENST00000395733.7:c.*86G>C ENSP00000379082.3:n.*86G>C
ENST00000451761.1:c.853G>C ENSP00000409894.1:n.853G>C
NM_017584.5:c.*55G>C NP_060054.4:n.*55G>C
XM_005261925.3:c.*55G>C XP_005261982.1:n.*55G>C
XR_244455.2:n.3409G>C
XM_005261925.4:c.*55G>C XP_005261982.1:n.*55G>C
NM_017584.6:c.*55G>C MANE Select NP_060054.4:n.*55G>C
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