Canonical Allele Identifier: CA244270244
Gene: NOS1 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs3782206

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.117307284C>T , CM000674.2:g.117307284C>T GRCh38
NC_000012.11:g.117745089C>T , CM000674.1:g.117745089C>T GRCh37
NC_000012.10:g.116229472C>T NCBI36
NG_011991.2:g.59494G>A

Transcript Alleles

HGVS Amino-acid change
NM_000620.4:c.852+4182G>A VV NP_000611.1:p.=
NM_001204214.1:c.-213+2033G>A VV NP_001191143.1:p.=
NM_001204218.1:c.852+4182G>A VV NP_001191147.1:p.=
XM_011538398.1:c.852+4182G>A XP_011536700.1:p.=
NM_000620.5:c.852+4182G>A VV MANE Preferred NP_000611.1:p.=
ENST00000317775.10:c.852+4182G>A ENSP00000320758.6:p.=
ENST00000338101.8:c.852+4182G>A ENSP00000337459.4:p.=
ENST00000344089.4:c.849+4182G>A ENSP00000339862.4:p.=
ENST00000618760.4:c.852+4182G>A ENSP00000477999.1:p.=