Canonical Allele Identifier: CA369854420
Gene: NOS3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150998994C>G , CM000669.2:g.150998994C>G GRCh38
NC_000007.13:g.150696082C>G , CM000669.1:g.150696082C>G GRCh37
NC_000007.12:g.150327015C>G NCBI36
NG_011992.1:g.12936C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000297494.8:c.865C>G MANE Select ENSP00000297494.3:p.Leu289Val
ENST00000297494.7:c.865C>G ENSP00000297494.3:p.Leu289Val
ENST00000461406.5:c.247C>G ENSP00000417143.1:p.Leu83Val
ENST00000467517.1:c.865C>G ENSP00000420551.1:p.Leu289Val
ENST00000484524.5:c.865C>G ENSP00000420215.1:p.Leu289Val
NM_000603.4:c.865C>G NP_000594.2:p.Leu289Val
NM_001160109.1:c.865C>G NP_001153581.1:p.Leu289Val
NM_001160110.1:c.865C>G NP_001153582.1:p.Leu289Val
NM_001160111.1:c.865C>G NP_001153583.1:p.Leu289Val
XM_006716002.2:c.865C>G XP_006716065.1:p.Leu289Val
NM_000603.5:c.865C>G MANE Select NP_000594.2:p.Leu289Val
NM_001160109.2:c.865C>G NP_001153581.1:p.Leu289Val