Canonical Allele Identifier: CA244264844

Gene: NOS1

Linked Data

• dbSNP Id: rs904368377
• gnomAD v2: 12-117738343-C-T
• gnomAD v3: 12-117300538-C-T
• gnomAD v4: 12-117300538-C-T
• MyVariant Identifiers: chr12:g.117738343C>T (hg19) ; chr12:g.117300538C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.117300538C>T , CM000674.2:g.117300538C>T	GRCh38
NC_000012.11:g.117738343C>T , CM000674.1:g.117738343C>T	GRCh37
NC_000012.10:g.116222726C>T	NCBI36
NG_011991.2:g.66240G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317775.11:c.853-10112G>A MANE Select	ENSP00000320758.6:n.853-10112G>A
ENST00000317775.10:c.853-10112G>A	ENSP00000320758.6:n.853-10112G>A
ENST00000338101.8:c.853-10112G>A	ENSP00000337459.4:n.853-10112G>A
ENST00000344089.4:c.850-10112G>A	ENSP00000339862.4:n.850-10112G>A
ENST00000618760.4:c.853-10112G>A	ENSP00000477999.1:n.853-10112G>A
NM_000620.4:c.853-10112G>A	NP_000611.1:n.853-10112G>A
NM_001204213.1:c.-157+1478G>A	NP_001191142.1:n.-157+1478G>A
NM_001204214.1:c.-157+1478G>A	NP_001191143.1:n.-157+1478G>A
NM_001204218.1:c.853-10112G>A	NP_001191147.1:n.853-10112G>A
XM_011538398.1:c.853-10112G>A	XP_011536700.1:n.853-10112G>A
NM_000620.5:c.853-10112G>A MANE Select	NP_000611.1:n.853-10112G>A
NM_001204213.2:c.-157+1478G>A	NP_001191142.1:n.-157+1478G>A
NM_001204214.2:c.-157+1478G>A	NP_001191143.1:n.-157+1478G>A
NM_001204218.2:c.853-10112G>A	NP_001191147.1:n.853-10112G>A