Canonical Allele Identifier: CA244287177
Gene: NOS1 HGNC NCBI

Linked Data

dbSNP Id: rs1029735366
MyVariant Identifiers: chr12:g.117767625A>G (hg19) chr12:g.117329820A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.117329820A>G , CM000674.2:g.117329820A>G GRCh38
NC_000012.11:g.117767625A>G , CM000674.1:g.117767625A>G GRCh37
NC_000012.10:g.116252008A>G NCBI36
NG_011991.2:g.36958T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000317775.11:c.725+525T>C MANE Select ENSP00000320758.6:n.725+525T>C
ENST00000317775.10:c.725+525T>C ENSP00000320758.6:n.725+525T>C
ENST00000338101.8:c.725+525T>C ENSP00000337459.4:n.725+525T>C
ENST00000344089.4:c.722+525T>C ENSP00000339862.4:n.722+525T>C
ENST00000618760.4:c.725+525T>C ENSP00000477999.1:n.725+525T>C
NM_000620.4:c.725+525T>C NP_000611.1:n.725+525T>C
NM_001204218.1:c.725+525T>C NP_001191147.1:n.725+525T>C
XM_011538398.1:c.725+525T>C XP_011536700.1:n.725+525T>C
NM_000620.5:c.725+525T>C MANE Select NP_000611.1:n.725+525T>C
NM_001204218.2:c.725+525T>C NP_001191147.1:n.725+525T>C
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