Canonical Allele Identifier: CA684137512
Gene: NOS1 HGNC NCBI

Linked Data

dbSNP Id: rs1453428026
MyVariant Identifiers: chr12:g.117795989G>T (hg19) chr12:g.117358184G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.117358184G>T , CM000674.2:g.117358184G>T GRCh38
NC_000012.11:g.117795989G>T , CM000674.1:g.117795989G>T GRCh37
NC_000012.10:g.116280372G>T NCBI36
NG_011991.2:g.8594C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317775.11:c.-421+3328C>A MANE Select ENSP00000320758.6:n.-421+3328C>A
ENST00000317775.10:c.-421+3328C>A ENSP00000320758.6:n.-421+3328C>A
ENST00000477584.1:n.118+3328C>A
ENST00000549189.1:n.471-26695C>A
ENST00000618760.4:c.-421+3328C>A ENSP00000477999.1:n.-421+3328C>A
NM_000620.4:c.-421+3328C>A NP_000611.1:n.-421+3328C>A
NM_001204218.1:c.-421+3328C>A NP_001191147.1:n.-421+3328C>A
XM_011538398.1:c.-421+807C>A XP_011536700.1:n.-421+807C>A
NM_000620.5:c.-421+3328C>A MANE Select NP_000611.1:n.-421+3328C>A
NM_001204218.2:c.-421+3328C>A NP_001191147.1:n.-421+3328C>A
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