Canonical Allele Identifier: CA2621193424
Gene: NOS1 HGNC NCBI

Linked Data

gnomAD v4: 12-117214960-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.117214960C>T , CM000674.2:g.117214960C>T GRCh38
NC_000012.11:g.117652765C>T , CM000674.1:g.117652765C>T GRCh37
NC_000012.10:g.116137148C>T NCBI36
NG_011991.2:g.151818G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000317775.11:c.*349G>A MANE Select ENSP00000320758.6:n.*349G>A
ENST00000317775.10:c.*349G>A ENSP00000320758.6:n.*349G>A
ENST00000618760.4:c.*349G>A ENSP00000477999.1:n.*349G>A
NM_000620.4:c.*349G>A NP_000611.1:n.*349G>A
NM_001204213.1:c.*349G>A NP_001191142.1:n.*349G>A
NM_001204214.1:c.*349G>A NP_001191143.1:n.*349G>A
NM_001204218.1:c.*349G>A NP_001191147.1:n.*349G>A
XM_011538398.1:c.*349G>A XP_011536700.1:n.*349G>A
NM_000620.5:c.*349G>A MANE Select NP_000611.1:n.*349G>A
NM_001204213.2:c.*349G>A NP_001191142.1:n.*349G>A
NM_001204214.2:c.*349G>A NP_001191143.1:n.*349G>A
NM_001204218.2:c.*349G>A NP_001191147.1:n.*349G>A
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