Canonical Allele Identifier: CA2066054859
Gene: NOS1 HGNC NCBI

Linked Data

dbSNP Id: rs1876938499

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.117358099T>C , CM000674.2:g.117358099T>C GRCh38
NC_000012.11:g.117795904T>C , CM000674.1:g.117795904T>C GRCh37
NC_000012.10:g.116280287T>C NCBI36
NG_011991.2:g.8679A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000317775.11:c.-421+3413A>G MANE Select ENSP00000320758.6:n.-421+3413A>G
ENST00000317775.10:c.-421+3413A>G ENSP00000320758.6:n.-421+3413A>G
ENST00000477584.1:n.118+3413A>G
ENST00000549189.1:n.471-26610A>G
ENST00000618760.4:c.-421+3413A>G ENSP00000477999.1:n.-421+3413A>G
NM_000620.4:c.-421+3413A>G NP_000611.1:n.-421+3413A>G
NM_001204218.1:c.-421+3413A>G NP_001191147.1:n.-421+3413A>G
XM_011538398.1:c.-421+892A>G XP_011536700.1:n.-421+892A>G
NM_000620.5:c.-421+3413A>G MANE Select NP_000611.1:n.-421+3413A>G
NM_001204218.2:c.-421+3413A>G NP_001191147.1:n.-421+3413A>G