Canonical Allele Identifier: CA2621193534
Gene: NOS1 HGNC NCBI

Linked Data

gnomAD v4: 12-117215056-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.117215056G>T , CM000674.2:g.117215056G>T GRCh38
NC_000012.11:g.117652861G>T , CM000674.1:g.117652861G>T GRCh37
NC_000012.10:g.116137244G>T NCBI36
NG_011991.2:g.151722C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317775.11:c.*253C>A MANE Select ENSP00000320758.6:n.*253C>A
ENST00000317775.10:c.*253C>A ENSP00000320758.6:n.*253C>A
ENST00000618760.4:c.*253C>A ENSP00000477999.1:n.*253C>A
NM_000620.4:c.*253C>A NP_000611.1:n.*253C>A
NM_001204213.1:c.*253C>A NP_001191142.1:n.*253C>A
NM_001204214.1:c.*253C>A NP_001191143.1:n.*253C>A
NM_001204218.1:c.*253C>A NP_001191147.1:n.*253C>A
XM_011538398.1:c.*253C>A XP_011536700.1:n.*253C>A
NM_000620.5:c.*253C>A MANE Select NP_000611.1:n.*253C>A
NM_001204213.2:c.*253C>A NP_001191142.1:n.*253C>A
NM_001204214.2:c.*253C>A NP_001191143.1:n.*253C>A
NM_001204218.2:c.*253C>A NP_001191147.1:n.*253C>A
Search 100 bp 5'
Search 100 bp 3'