Canonical Allele Identifier: CA684164254
Gene: NOS1 HGNC NCBI

Linked Data

dbSNP Id: rs1244474760
gnomAD v3: 12-117329747-C-T
gnomAD v4: 12-117329747-C-T
MyVariant Identifiers: chr12:g.117767552C>T (hg19) chr12:g.117329747C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.117329747C>T , CM000674.2:g.117329747C>T GRCh38
NC_000012.11:g.117767552C>T , CM000674.1:g.117767552C>T GRCh37
NC_000012.10:g.116251935C>T NCBI36
NG_011991.2:g.37031G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000317775.11:c.725+598G>A MANE Select ENSP00000320758.6:n.725+598G>A
ENST00000317775.10:c.725+598G>A ENSP00000320758.6:n.725+598G>A
ENST00000338101.8:c.725+598G>A ENSP00000337459.4:n.725+598G>A
ENST00000344089.4:c.722+598G>A ENSP00000339862.4:n.722+598G>A
ENST00000618760.4:c.725+598G>A ENSP00000477999.1:n.725+598G>A
NM_000620.4:c.725+598G>A NP_000611.1:n.725+598G>A
NM_001204218.1:c.725+598G>A NP_001191147.1:n.725+598G>A
XM_011538398.1:c.725+598G>A XP_011536700.1:n.725+598G>A
NM_000620.5:c.725+598G>A MANE Select NP_000611.1:n.725+598G>A
NM_001204218.2:c.725+598G>A NP_001191147.1:n.725+598G>A
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