Canonical Allele Identifier: CA2797627583
Gene: NOS1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.117358045C>T , CM000674.2:g.117358045C>T GRCh38
NC_000012.11:g.117795850C>T , CM000674.1:g.117795850C>T GRCh37
NC_000012.10:g.116280233C>T NCBI36
NG_011991.2:g.8733G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317775.11:c.-421+3467G>A MANE Select ENSP00000320758.6:n.-421+3467G>A
ENST00000317775.10:c.-421+3467G>A ENSP00000320758.6:n.-421+3467G>A
ENST00000477584.1:n.118+3467G>A
ENST00000549189.1:n.471-26556G>A
ENST00000618760.4:c.-421+3467G>A ENSP00000477999.1:n.-421+3467G>A
NM_000620.4:c.-421+3467G>A NP_000611.1:n.-421+3467G>A
NM_001204218.1:c.-421+3467G>A NP_001191147.1:n.-421+3467G>A
XM_011538398.1:c.-421+946G>A XP_011536700.1:n.-421+946G>A
NM_000620.5:c.-421+3467G>A MANE Select NP_000611.1:n.-421+3467G>A
NM_001204218.2:c.-421+3467G>A NP_001191147.1:n.-421+3467G>A
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