Canonical Allele Identifier: CA2066046758
Gene: NOS1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.117350435C>A , CM000674.2:g.117350435C>A GRCh38
NC_000012.11:g.117788240C>A , CM000674.1:g.117788240C>A GRCh37
NC_000012.10:g.116272623C>A NCBI36
NG_011991.2:g.16343G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000317775.11:c.-421+11077G>T MANE Select ENSP00000320758.6:n.-421+11077G>T
ENST00000317775.10:c.-421+11077G>T ENSP00000320758.6:n.-421+11077G>T
ENST00000477584.1:n.119-2043G>T
ENST00000549189.1:n.471-18946G>T
ENST00000618760.4:c.-421+11077G>T ENSP00000477999.1:n.-421+11077G>T
NM_000620.4:c.-421+11077G>T NP_000611.1:n.-421+11077G>T
NM_001204218.1:c.-421+11077G>T NP_001191147.1:n.-421+11077G>T
XM_011538398.1:c.-421+8556G>T XP_011536700.1:n.-421+8556G>T
NM_000620.5:c.-421+11077G>T MANE Select NP_000611.1:n.-421+11077G>T
NM_001204218.2:c.-421+11077G>T NP_001191147.1:n.-421+11077G>T
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