Canonical Allele Identifier: CA13768406

Gene: NOS1

Linked Data

• dbSNP Id: rs56257650
• gnomAD v2: 12-117779856-A-C
• gnomAD v3: 12-117342051-A-C
• gnomAD v4: 12-117342051-A-C
• MyVariant Identifiers: chr12:g.117779856A>C (hg19) ; chr12:g.117342051A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.117342051A>C , CM000674.2:g.117342051A>C	GRCh38
NC_000012.11:g.117779856A>C , CM000674.1:g.117779856A>C	GRCh37
NC_000012.10:g.116264239A>C	NCBI36
NG_011991.2:g.24727T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317775.11:c.-420-10562T>G MANE Select	ENSP00000320758.6:n.-420-10562T>G
ENST00000317775.10:c.-420-10562T>G	ENSP00000320758.6:n.-420-10562T>G
ENST00000549189.1:n.471-10562T>G
ENST00000618760.4:c.-420-10562T>G	ENSP00000477999.1:n.-420-10562T>G
NM_000620.4:c.-420-10562T>G	NP_000611.1:n.-420-10562T>G
NM_001204218.1:c.-420-10562T>G	NP_001191147.1:n.-420-10562T>G
XM_011538398.1:c.-420-10562T>G	XP_011536700.1:n.-420-10562T>G
NM_000620.5:c.-420-10562T>G MANE Select	NP_000611.1:n.-420-10562T>G
NM_001204218.2:c.-420-10562T>G	NP_001191147.1:n.-420-10562T>G