Canonical Allele Identifier: CA13554203
Gene: NADSYN1 HGNC NCBI

Linked Data

dbSNP Id: rs2282618
gnomAD v2: 11-71183737-T-C
gnomAD v3: 11-71472691-T-C
gnomAD v4: 11-71472691-T-C
MyVariant Identifiers: chr11:g.71183737T>C (hg19) chr11:g.71472691T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.71472691T>C , CM000673.2:g.71472691T>C GRCh38
NC_000011.9:g.71183737T>C , CM000673.1:g.71183737T>C GRCh37
NC_000011.8:g.70861385T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000319023.7:c.459+191T>C MANE Select ENSP00000326424.2:n.459+191T>C
ENST00000319023.6:c.459+191T>C ENSP00000326424.2:n.459+191T>C
ENST00000525200.5:c.359+191T>C
ENST00000528509.5:c.459+191T>C ENSP00000433472.1:n.459+191T>C
ENST00000529120.5:c.*204+191T>C ENSP00000437220.1:n.*204+191T>C
NM_018161.4:c.459+191T>C NP_060631.2:n.459+191T>C
NM_018161.5:c.459+191T>C MANE Select NP_060631.2:n.459+191T>C
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