Canonical Allele Identifier: CA13421510
Gene: NADSYN1 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.71476633C>T
GRCh37 chr11:g.71187679C>T
gnomAD v2:
11:71187679 C / T
gnomAD v3:
11:71476633 C / T
gnomAD v4:
chr11-71476633-C-T
Joint Max Group AF 0.78069721 (NFE)
Genomes Max Group AF 0.73737458 (NFE)
Exomes Max Group AF 0.78414972 (NFE)
dbSNP:
3794060
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.71476633C>T , CM000673.2:g.71476633C>T GRCh38
NC_000011.9:g.71187679C>T , CM000673.1:g.71187679C>T GRCh37
NC_000011.8:g.70865327C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000319023.7:c.799-1762C>T MANE Select ENSP00000326424.2:n.799-1762C>T
ENST00000527852.6:c.133-712C>T ENSP00000431515.2:n.133-712C>T
ENST00000319023.6:c.799-1762C>T ENSP00000326424.2:n.799-1762C>T
ENST00000525200.5:c.1299C>T
ENST00000528509.5:c.*1442C>T ENSP00000433472.1:n.*1442C>T
ENST00000530534.1:n.157-1762C>T
NM_018161.4:c.799-1762C>T NP_060631.2:n.799-1762C>T
NM_018161.5:c.799-1762C>T MANE Select NP_060631.2:n.799-1762C>T
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