Canonical Allele Identifier: CA684125694

Gene: NOS1

Linked Data

• dbSNP Id: rs1279875498
• gnomAD v3: 12-117339710-G-T
• gnomAD v4: 12-117339710-G-T
• MyVariant Identifiers: chr12:g.117777515G>T (hg19) ; chr12:g.117339710G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.117339710G>T , CM000674.2:g.117339710G>T	GRCh38
NC_000012.11:g.117777515G>T , CM000674.1:g.117777515G>T	GRCh37
NC_000012.10:g.116261898G>T	NCBI36
NG_011991.2:g.27068C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317775.11:c.-420-8221C>A MANE Select	ENSP00000320758.6:n.-420-8221C>A
ENST00000317775.10:c.-420-8221C>A	ENSP00000320758.6:n.-420-8221C>A
ENST00000549189.1:n.471-8221C>A
ENST00000618760.4:c.-420-8221C>A	ENSP00000477999.1:n.-420-8221C>A
NM_000620.4:c.-420-8221C>A	NP_000611.1:n.-420-8221C>A
NM_001204218.1:c.-420-8221C>A	NP_001191147.1:n.-420-8221C>A
XM_011538398.1:c.-420-8221C>A	XP_011536700.1:n.-420-8221C>A
NM_000620.5:c.-420-8221C>A MANE Select	NP_000611.1:n.-420-8221C>A
NM_001204218.2:c.-420-8221C>A	NP_001191147.1:n.-420-8221C>A