Canonical Allele Identifier: CA684137500

Gene: NOS1

Linked Data

• dbSNP Id: rs1392443704
• gnomAD v3: 12-117358179-G-A
• gnomAD v4: 12-117358179-G-A
• MyVariant Identifiers: chr12:g.117795984G>A (hg19) ; chr12:g.117358179G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.117358179G>A , CM000674.2:g.117358179G>A	GRCh38
NC_000012.11:g.117795984G>A , CM000674.1:g.117795984G>A	GRCh37
NC_000012.10:g.116280367G>A	NCBI36
NG_011991.2:g.8599C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317775.11:c.-421+3333C>T MANE Select	ENSP00000320758.6:n.-421+3333C>T
ENST00000317775.10:c.-421+3333C>T	ENSP00000320758.6:n.-421+3333C>T
ENST00000477584.1:n.118+3333C>T
ENST00000549189.1:n.471-26690C>T
ENST00000618760.4:c.-421+3333C>T	ENSP00000477999.1:n.-421+3333C>T
NM_000620.4:c.-421+3333C>T	NP_000611.1:n.-421+3333C>T
NM_001204218.1:c.-421+3333C>T	NP_001191147.1:n.-421+3333C>T
XM_011538398.1:c.-421+812C>T	XP_011536700.1:n.-421+812C>T
NM_000620.5:c.-421+3333C>T MANE Select	NP_000611.1:n.-421+3333C>T
NM_001204218.2:c.-421+3333C>T	NP_001191147.1:n.-421+3333C>T