Canonical Allele Identifier: CA2066008693
Community Standard Title: NM_000620.5(NOS1):c.725+8703C=
Gene: NOS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.117321642G= , CM000674.2:g.117321642G= GRCh38
NC_000012.11:g.117759447G= , CM000674.1:g.117759447G= GRCh37
NC_000012.10:g.116243830G= NCBI36
NG_011991.2:g.45136C=

Transcript Alleles

HGVS Amino-acid Change
NM_000620.5:c.725+8703C= MANE Select NP_000611.1:n.725+8703C=
ENST00000317775.11:c.725+8703C= MANE Select ENSP00000320758.6:n.725+8703C=
NM_000620.4:c.725+8703C= NP_000611.1:n.725+8703C=
NM_001204218.1:c.725+8703C= NP_001191147.1:n.725+8703C=
NM_001204218.2:c.725+8703C= NP_001191147.1:n.725+8703C=
ENST00000317775.10:c.725+8703C= ENSP00000320758.6:n.725+8703C=
ENST00000338101.8:c.725+8703C= ENSP00000337459.4:n.725+8703C=
ENST00000344089.4:c.722+8703C= ENSP00000339862.4:n.722+8703C=
ENST00000618760.4:c.725+8703C= ENSP00000477999.1:n.725+8703C=
XM_011538398.1:c.725+8703C= XP_011536700.1:n.725+8703C=