Canonical Allele Identifier: CA244272205

Gene: NOS1

Linked Data

• dbSNP Id: rs1028268789
• gnomAD v2: 12-117747563-G-C
• gnomAD v3: 12-117309758-G-C
• gnomAD v4: 12-117309758-G-C
• MyVariant Identifiers: chr12:g.117747563G>C (hg19) ; chr12:g.117309758G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.117309758G>C , CM000674.2:g.117309758G>C	GRCh38
NC_000012.11:g.117747563G>C , CM000674.1:g.117747563G>C	GRCh37
NC_000012.10:g.116231946G>C	NCBI36
NG_011991.2:g.57020C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000317775.11:c.852+1708C>G MANE Select	ENSP00000320758.6:n.852+1708C>G
ENST00000317775.10:c.852+1708C>G	ENSP00000320758.6:n.852+1708C>G
ENST00000338101.8:c.852+1708C>G	ENSP00000337459.4:n.852+1708C>G
ENST00000344089.4:c.849+1708C>G	ENSP00000339862.4:n.849+1708C>G
ENST00000618760.4:c.852+1708C>G	ENSP00000477999.1:n.852+1708C>G
NM_000620.4:c.852+1708C>G	NP_000611.1:n.852+1708C>G
NM_001204218.1:c.852+1708C>G	NP_001191147.1:n.852+1708C>G
XM_011538398.1:c.852+1708C>G	XP_011536700.1:n.852+1708C>G
NM_000620.5:c.852+1708C>G MANE Select	NP_000611.1:n.852+1708C>G
NM_001204218.2:c.852+1708C>G	NP_001191147.1:n.852+1708C>G