Canonical Allele Identifier: CA244264797

Gene: NOS1

Linked Data

• dbSNP Id: rs1051632134
• MyVariant Identifiers: chr12:g.117738323C>T (hg19) ; chr12:g.117300518C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.117300518C>T , CM000674.2:g.117300518C>T	GRCh38
NC_000012.11:g.117738323C>T , CM000674.1:g.117738323C>T	GRCh37
NC_000012.10:g.116222706C>T	NCBI36
NG_011991.2:g.66260G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000317775.11:c.853-10092G>A MANE Select	ENSP00000320758.6:n.853-10092G>A
ENST00000317775.10:c.853-10092G>A	ENSP00000320758.6:n.853-10092G>A
ENST00000338101.8:c.853-10092G>A	ENSP00000337459.4:n.853-10092G>A
ENST00000344089.4:c.850-10092G>A	ENSP00000339862.4:n.850-10092G>A
ENST00000618760.4:c.853-10092G>A	ENSP00000477999.1:n.853-10092G>A
NM_000620.4:c.853-10092G>A	NP_000611.1:n.853-10092G>A
NM_001204213.1:c.-157+1498G>A	NP_001191142.1:n.-157+1498G>A
NM_001204214.1:c.-157+1498G>A	NP_001191143.1:n.-157+1498G>A
NM_001204218.1:c.853-10092G>A	NP_001191147.1:n.853-10092G>A
XM_011538398.1:c.853-10092G>A	XP_011536700.1:n.853-10092G>A
NM_000620.5:c.853-10092G>A MANE Select	NP_000611.1:n.853-10092G>A
NM_001204213.2:c.-157+1498G>A	NP_001191142.1:n.-157+1498G>A
NM_001204214.2:c.-157+1498G>A	NP_001191143.1:n.-157+1498G>A
NM_001204218.2:c.853-10092G>A	NP_001191147.1:n.853-10092G>A