Canonical Allele Identifier: CA4002921
Gene: MOXD1 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.132297175G>A
GRCh37 chr6:g.132618314G>A
Revel Score:
ENST00000367963 (MANE Select) 0.126
ENST00000336749 0.126
gnomAD v2:
6:132618314 G / A
gnomAD v3:
6:132297175 G / A
gnomAD v4:
chr6-132297175-G-A
Joint Max Group AF 0.00006765 (SAS)
Exomes Max Group AF 0.00006249 (SAS)
ClinVar RCV:
RCV004071346
ClinVar Variation:
2206036
dbSNP:
142389314
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.132297175G>A , CM000668.2:g.132297175G>A GRCh38
NC_000006.11:g.132618314G>A , CM000668.1:g.132618314G>A GRCh37
NC_000006.10:g.132660007G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000367963.8:c.1820C>T MANE Select ENSP00000356940.3:p.Thr607Met
ENST00000336749.3:c.1616C>T ENSP00000336998.3:p.Thr539Met
ENST00000367963.7:c.1820C>T ENSP00000356940.3:p.Thr607Met
NM_015529.3:c.1820C>T NP_056344.2:p.Thr607Met
XM_017010714.2:c.1715C>T XP_016866203.1:p.Thr572Met
NM_015529.4:c.1820C>T MANE Select NP_056344.2:p.Thr607Met
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