Canonical Allele Identifier: CA2066025154
Community Standard Title: NM_000620.5(NOS1):c.-420-2217G=
Gene: NOS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.117333706C= , CM000674.2:g.117333706C= GRCh38
NC_000012.11:g.117771511C= , CM000674.1:g.117771511C= GRCh37
NC_000012.10:g.116255894C= NCBI36
NG_011991.2:g.33072G=

Transcript Alleles

HGVS Amino-acid Change
NM_000620.5:c.-420-2217G= MANE Select NP_000611.1:n.-420-2217G=
ENST00000317775.11:c.-420-2217G= MANE Select ENSP00000320758.6:n.-420-2217G=
NM_000620.4:c.-420-2217G= NP_000611.1:n.-420-2217G=
NM_001204218.1:c.-420-2217G= NP_001191147.1:n.-420-2217G=
NM_001204218.2:c.-420-2217G= NP_001191147.1:n.-420-2217G=
ENST00000317775.10:c.-420-2217G= ENSP00000320758.6:n.-420-2217G=
ENST00000549189.1:n.471-2217G=
ENST00000618760.4:c.-420-2217G= ENSP00000477999.1:n.-420-2217G=
XM_011538398.1:c.-420-2217G= XP_011536700.1:n.-420-2217G=