Canonical Allele Identifier: CA6162912
Gene: NADSYN1 HGNC NCBI
COSMIC:
COSN19656850 (not active)
MyVariant.info:
GRCh38 chr11:g.71463507C>T
GRCh37 chr11:g.71174553C>T
gnomAD v2:
11:71174553 C / T
gnomAD v3:
11:71463507 C / T
gnomAD v4:
chr11-71463507-C-T
Joint Max Group AF 0.45673636 (SAS)
Genomes Max Group AF 0.44123487 (SAS)
Exomes Max Group AF 0.45681774 (SAS)
ClinVar RCV:
RCV001779929
ClinVar Variation:
1321837
dbSNP:
1629220
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.71463507C>T , CM000673.2:g.71463507C>T GRCh38
NC_000011.9:g.71174553C>T , CM000673.1:g.71174553C>T GRCh37
NC_000011.8:g.70852201C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000319023.7:c.317+22C>T MANE Select ENSP00000326424.2:n.317+22C>T
ENST00000319023.6:c.317+22C>T ENSP00000326424.2:n.317+22C>T
ENST00000524949.5:n.383+22C>T
ENST00000525200.5:c.217+22C>T
ENST00000528509.5:c.317+22C>T ENSP00000433472.1:n.317+22C>T
ENST00000529120.5:c.*62+22C>T ENSP00000437220.1:n.*62+22C>T
ENST00000533769.5:n.383+22C>T
NM_018161.4:c.317+22C>T NP_060631.2:n.317+22C>T
NM_018161.5:c.317+22C>T MANE Select NP_060631.2:n.317+22C>T
Search 100 bp 5'
Search 100 bp 3'