Canonical Allele Identifier: CA244253439
Gene: NOS1 HGNC NCBI

Linked Data

dbSNP Id: rs993008467
MyVariant Identifiers: chr12:g.117780203C>T (hg19) chr12:g.117342398C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.117342398C>T , CM000674.2:g.117342398C>T GRCh38
NC_000012.11:g.117780203C>T , CM000674.1:g.117780203C>T GRCh37
NC_000012.10:g.116264586C>T NCBI36
NG_011991.2:g.24380G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317775.11:c.-420-10909G>A MANE Select ENSP00000320758.6:n.-420-10909G>A
ENST00000317775.10:c.-420-10909G>A ENSP00000320758.6:n.-420-10909G>A
ENST00000549189.1:n.471-10909G>A
ENST00000618760.4:c.-420-10909G>A ENSP00000477999.1:n.-420-10909G>A
NM_000620.4:c.-420-10909G>A NP_000611.1:n.-420-10909G>A
NM_001204218.1:c.-420-10909G>A NP_001191147.1:n.-420-10909G>A
XM_011538398.1:c.-420-10909G>A XP_011536700.1:n.-420-10909G>A
NM_000620.5:c.-420-10909G>A MANE Select NP_000611.1:n.-420-10909G>A
NM_001204218.2:c.-420-10909G>A NP_001191147.1:n.-420-10909G>A
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