Canonical Allele Identifier: CA3953526
Gene: MICAL1 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.109450487C>T
GRCh37 chr6:g.109771690C>T
Revel Score:
ENST00000358807 (MANE Select) 0.109
ENST00000368952 0.109
gnomAD v2:
6:109771690 C / T
gnomAD v3:
6:109450487 C / T
gnomAD v4:
chr6-109450487-C-T
Joint Max Group AF 0.00007228 (AFR)
Genomes Max Group AF 0.00006283 (AFR)
Exomes Max Group AF 0.00003983 (AFR)
ClinVar RCV:
RCV003063557
ClinVar Variation:
2148765
dbSNP:
146309804
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.109450487C>T , CM000668.2:g.109450487C>T GRCh38
NC_000006.11:g.109771690C>T , CM000668.1:g.109771690C>T GRCh37
NC_000006.10:g.109878383C>T NCBI36
NG_042833.1:g.20482G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000358807.8:c.1004G>A MANE Select ENSP00000351664.3:p.Arg335Gln
ENST00000358577.7:c.934-402G>A ENSP00000351385.3:n.934-402G>A
ENST00000358807.7:c.1004G>A ENSP00000351664.3:p.Arg335Gln
ENST00000456101.6:n.1838G>A
ENST00000630715.2:c.1061G>A ENSP00000486901.1:p.Arg354Gln
NM_001159291.1:c.934-402G>A NP_001152763.1:n.934-402G>A
NM_001286613.1:c.1061G>A NP_001273542.1:p.Arg354Gln
NM_022765.3:c.1004G>A NP_073602.3:p.Arg335Gln
NM_022765.4:c.1004G>A MANE Select NP_073602.3:p.Arg335Gln
NM_001159291.2:c.934-402G>A NP_001152763.1:n.934-402G>A
NM_001286613.2:c.1061G>A NP_001273542.1:p.Arg354Gln
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