Canonical Allele Identifier: CA244287135

Gene: NOS1

Linked Data

• dbSNP Id: rs1005458059
• gnomAD v2: 12-117767579-G-A
• gnomAD v3: 12-117329774-G-A
• gnomAD v4: 12-117329774-G-A
• MyVariant Identifiers: chr12:g.117767579G>A (hg19) ; chr12:g.117329774G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.117329774G>A , CM000674.2:g.117329774G>A	GRCh38
NC_000012.11:g.117767579G>A , CM000674.1:g.117767579G>A	GRCh37
NC_000012.10:g.116251962G>A	NCBI36
NG_011991.2:g.37004C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000317775.11:c.725+571C>T MANE Select	ENSP00000320758.6:n.725+571C>T
ENST00000317775.10:c.725+571C>T	ENSP00000320758.6:n.725+571C>T
ENST00000338101.8:c.725+571C>T	ENSP00000337459.4:n.725+571C>T
ENST00000344089.4:c.722+571C>T	ENSP00000339862.4:n.722+571C>T
ENST00000618760.4:c.725+571C>T	ENSP00000477999.1:n.725+571C>T
NM_000620.4:c.725+571C>T	NP_000611.1:n.725+571C>T
NM_001204218.1:c.725+571C>T	NP_001191147.1:n.725+571C>T
XM_011538398.1:c.725+571C>T	XP_011536700.1:n.725+571C>T
NM_000620.5:c.725+571C>T MANE Select	NP_000611.1:n.725+571C>T
NM_001204218.2:c.725+571C>T	NP_001191147.1:n.725+571C>T