Canonical Allele Identifier: CA952286863
Gene: NOS1 HGNC NCBI

Linked Data

dbSNP Id: rs1875433292
gnomAD v3: 12-117329699-G-C
gnomAD v4: 12-117329699-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.117329699G>C , CM000674.2:g.117329699G>C GRCh38
NC_000012.11:g.117767504G>C , CM000674.1:g.117767504G>C GRCh37
NC_000012.10:g.116251887G>C NCBI36
NG_011991.2:g.37079C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000317775.11:c.725+646C>G MANE Select ENSP00000320758.6:n.725+646C>G
ENST00000317775.10:c.725+646C>G ENSP00000320758.6:n.725+646C>G
ENST00000338101.8:c.725+646C>G ENSP00000337459.4:n.725+646C>G
ENST00000344089.4:c.722+646C>G ENSP00000339862.4:n.722+646C>G
ENST00000618760.4:c.725+646C>G ENSP00000477999.1:n.725+646C>G
NM_000620.4:c.725+646C>G NP_000611.1:n.725+646C>G
NM_001204218.1:c.725+646C>G NP_001191147.1:n.725+646C>G
XM_011538398.1:c.725+646C>G XP_011536700.1:n.725+646C>G
NM_000620.5:c.725+646C>G MANE Select NP_000611.1:n.725+646C>G
NM_001204218.2:c.725+646C>G NP_001191147.1:n.725+646C>G
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