Canonical Allele Identifier: CA244270088

Gene: NOS1

Linked Data

• dbSNP Id: rs539463823
• gnomAD v3: 12-117307185-G-A
• gnomAD v4: 12-117307185-G-A
• MyVariant Identifiers: chr12:g.117744990G>A (hg19) ; chr12:g.117307185G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.117307185G>A , CM000674.2:g.117307185G>A	GRCh38
NC_000012.11:g.117744990G>A , CM000674.1:g.117744990G>A	GRCh37
NC_000012.10:g.116229373G>A	NCBI36
NG_011991.2:g.59593C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000317775.11:c.852+4281C>T MANE Select	ENSP00000320758.6:n.852+4281C>T
ENST00000317775.10:c.852+4281C>T	ENSP00000320758.6:n.852+4281C>T
ENST00000338101.8:c.852+4281C>T	ENSP00000337459.4:n.852+4281C>T
ENST00000344089.4:c.849+4281C>T	ENSP00000339862.4:n.849+4281C>T
ENST00000618760.4:c.852+4281C>T	ENSP00000477999.1:n.852+4281C>T
NM_000620.4:c.852+4281C>T	NP_000611.1:n.852+4281C>T
NM_001204214.1:c.-213+2132C>T	NP_001191143.1:n.-213+2132C>T
NM_001204218.1:c.852+4281C>T	NP_001191147.1:n.852+4281C>T
XM_011538398.1:c.852+4281C>T	XP_011536700.1:n.852+4281C>T
NM_000620.5:c.852+4281C>T MANE Select	NP_000611.1:n.852+4281C>T
NM_001204214.2:c.-213+2132C>T	NP_001191143.1:n.-213+2132C>T
NM_001204218.2:c.852+4281C>T	NP_001191147.1:n.852+4281C>T