Canonical Allele Identifier: CA244269997

Gene: NOS1

Linked Data

• dbSNP Id: rs772125067
• gnomAD v2: 12-117744911-G-A
• gnomAD v3: 12-117307106-G-A
• gnomAD v4: 12-117307106-G-A
• MyVariant Identifiers: chr12:g.117744911G>A (hg19) ; chr12:g.117307106G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.117307106G>A , CM000674.2:g.117307106G>A	GRCh38
NC_000012.11:g.117744911G>A , CM000674.1:g.117744911G>A	GRCh37
NC_000012.10:g.116229294G>A	NCBI36
NG_011991.2:g.59672C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000317775.11:c.852+4360C>T MANE Select	ENSP00000320758.6:n.852+4360C>T
ENST00000317775.10:c.852+4360C>T	ENSP00000320758.6:n.852+4360C>T
ENST00000338101.8:c.852+4360C>T	ENSP00000337459.4:n.852+4360C>T
ENST00000344089.4:c.849+4360C>T	ENSP00000339862.4:n.849+4360C>T
ENST00000618760.4:c.852+4360C>T	ENSP00000477999.1:n.852+4360C>T
NM_000620.4:c.852+4360C>T	NP_000611.1:n.852+4360C>T
NM_001204214.1:c.-213+2211C>T	NP_001191143.1:n.-213+2211C>T
NM_001204218.1:c.852+4360C>T	NP_001191147.1:n.852+4360C>T
XM_011538398.1:c.852+4360C>T	XP_011536700.1:n.852+4360C>T
NM_000620.5:c.852+4360C>T MANE Select	NP_000611.1:n.852+4360C>T
NM_001204214.2:c.-213+2211C>T	NP_001191143.1:n.-213+2211C>T
NM_001204218.2:c.852+4360C>T	NP_001191147.1:n.852+4360C>T