Canonical Allele Identifier: CA13421499
Gene: NADSYN1 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.71459957G>A
GRCh37 chr11:g.71171003G>A
gnomAD v2:
11:71171003 G / A
gnomAD v3:
11:71459957 G / A
gnomAD v4:
chr11-71459957-G-A
Joint Max Group AF 0.7381414 (NFE)
Genomes Max Group AF 0.73812859 (NFE)
Exomes Max Group AF 0.6107713 (NFE)
dbSNP:
12800438
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.71459957G>A , CM000673.2:g.71459957G>A GRCh38
NC_000011.9:g.71171003G>A , CM000673.1:g.71171003G>A GRCh37
NC_000011.8:g.70848651G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000319023.7:c.263+1413G>A MANE Select ENSP00000326424.2:n.263+1413G>A
ENST00000319023.6:c.263+1413G>A ENSP00000326424.2:n.263+1413G>A
ENST00000524949.5:n.329+1413G>A
ENST00000525200.5:c.163+1413G>A
ENST00000525245.1:n.205-84G>A
ENST00000527538.5:n.602G>A
ENST00000528509.5:c.263+1413G>A ENSP00000433472.1:n.263+1413G>A
ENST00000529120.5:c.*8+1401G>A ENSP00000437220.1:n.*8+1401G>A
ENST00000533769.5:n.329+1413G>A
NM_018161.4:c.263+1413G>A NP_060631.2:n.263+1413G>A
NM_018161.5:c.263+1413G>A MANE Select NP_060631.2:n.263+1413G>A
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