Canonical Allele Identifier: CA244253525
Gene: NOS1 HGNC NCBI

Linked Data

dbSNP Id: rs932510722
MyVariant Identifiers: chr12:g.117780362G>T (hg19) chr12:g.117342557G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.117342557G>T , CM000674.2:g.117342557G>T GRCh38
NC_000012.11:g.117780362G>T , CM000674.1:g.117780362G>T GRCh37
NC_000012.10:g.116264745G>T NCBI36
NG_011991.2:g.24221C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000317775.11:c.-420-11068C>A MANE Select ENSP00000320758.6:n.-420-11068C>A
ENST00000317775.10:c.-420-11068C>A ENSP00000320758.6:n.-420-11068C>A
ENST00000549189.1:n.471-11068C>A
ENST00000618760.4:c.-420-11068C>A ENSP00000477999.1:n.-420-11068C>A
NM_000620.4:c.-420-11068C>A NP_000611.1:n.-420-11068C>A
NM_001204218.1:c.-420-11068C>A NP_001191147.1:n.-420-11068C>A
XM_011538398.1:c.-420-11068C>A XP_011536700.1:n.-420-11068C>A
NM_000620.5:c.-420-11068C>A MANE Select NP_000611.1:n.-420-11068C>A
NM_001204218.2:c.-420-11068C>A NP_001191147.1:n.-420-11068C>A
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