Canonical Allele Identifier: CA244270272

Gene: NOS1

Linked Data

• dbSNP Id: rs974472116
• gnomAD v2: 12-117745144-G-T
• gnomAD v3: 12-117307339-G-T
• gnomAD v4: 12-117307339-G-T
• MyVariant Identifiers: chr12:g.117745144G>T (hg19) ; chr12:g.117307339G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.117307339G>T , CM000674.2:g.117307339G>T	GRCh38
NC_000012.11:g.117745144G>T , CM000674.1:g.117745144G>T	GRCh37
NC_000012.10:g.116229527G>T	NCBI36
NG_011991.2:g.59439C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000317775.11:c.852+4127C>A MANE Select	ENSP00000320758.6:n.852+4127C>A
ENST00000317775.10:c.852+4127C>A	ENSP00000320758.6:n.852+4127C>A
ENST00000338101.8:c.852+4127C>A	ENSP00000337459.4:n.852+4127C>A
ENST00000344089.4:c.849+4127C>A	ENSP00000339862.4:n.849+4127C>A
ENST00000618760.4:c.852+4127C>A	ENSP00000477999.1:n.852+4127C>A
NM_000620.4:c.852+4127C>A	NP_000611.1:n.852+4127C>A
NM_001204214.1:c.-213+1978C>A	NP_001191143.1:n.-213+1978C>A
NM_001204218.1:c.852+4127C>A	NP_001191147.1:n.852+4127C>A
XM_011538398.1:c.852+4127C>A	XP_011536700.1:n.852+4127C>A
NM_000620.5:c.852+4127C>A MANE Select	NP_000611.1:n.852+4127C>A
NM_001204214.2:c.-213+1978C>A	NP_001191143.1:n.-213+1978C>A
NM_001204218.2:c.852+4127C>A	NP_001191147.1:n.852+4127C>A