Canonical Allele Identifier: CA2575309570

Gene: NOS1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.117214963C>T , CM000674.2:g.117214963C>T	GRCh38
NC_000012.11:g.117652768C>T , CM000674.1:g.117652768C>T	GRCh37
NC_000012.10:g.116137151C>T	NCBI36
NG_011991.2:g.151815G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000317775.11:c.*346G>A MANE Select	ENSP00000320758.6:n.*346G>A
ENST00000317775.10:c.*346G>A	ENSP00000320758.6:n.*346G>A
ENST00000618760.4:c.*346G>A	ENSP00000477999.1:n.*346G>A
NM_000620.4:c.*346G>A	NP_000611.1:n.*346G>A
NM_001204213.1:c.*346G>A	NP_001191142.1:n.*346G>A
NM_001204214.1:c.*346G>A	NP_001191143.1:n.*346G>A
NM_001204218.1:c.*346G>A	NP_001191147.1:n.*346G>A
XM_011538398.1:c.*346G>A	XP_011536700.1:n.*346G>A
NM_000620.5:c.*346G>A MANE Select	NP_000611.1:n.*346G>A
NM_001204213.2:c.*346G>A	NP_001191142.1:n.*346G>A
NM_001204214.2:c.*346G>A	NP_001191143.1:n.*346G>A
NM_001204218.2:c.*346G>A	NP_001191147.1:n.*346G>A