Canonical Allele Identifier: CA486093268
Gene: NPAS3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.34269709C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.33800503C>A , CM000676.2:g.33800503C>A GRCh38
NC_000014.8:g.34269709C>A , CM000676.1:g.34269709C>A GRCh37
NC_000014.7:g.33339460C>A NCBI36
NG_013036.1:g.866251C>A
NG_013036.2:g.866251C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356141.9:c.2196C>A MANE Select ENSP00000348460.4:p.Gly732=
ENST00000551634.6:c.2205C>A ENSP00000448373.2:p.Gly735=
ENST00000680362.1:c.2096C>A
ENST00000681323.1:c.793+2922C>A
ENST00000346562.6:c.2100C>A ENSP00000319610.5:p.Gly700=
ENST00000356141.8:c.2196C>A ENSP00000348460.4:p.Gly732=
ENST00000357798.9:c.2157C>A ENSP00000350446.5:p.Gly719=
ENST00000548645.5:c.2106C>A ENSP00000448916.1:p.Gly702=
ENST00000551492.5:c.2211C>A ENSP00000450392.1:p.Gly737=
ENST00000551634.5:c.2118C>A ENSP00000448373.1:p.Gly706=
NM_001164749.1:c.2196C>A NP_001158221.1:p.Gly732=
NM_001165893.1:c.2106C>A NP_001159365.1:p.Gly702=
NM_022123.2:c.2100C>A NP_071406.1:p.Gly700=
NM_173159.2:c.2157C>A NP_775182.1:p.Gly719=
XM_005267991.2:c.2217C>A XP_005268048.1:p.Gly739=
XM_005267992.2:c.2211C>A XP_005268049.1:p.Gly737=
XM_005267993.2:c.2157C>A XP_005268050.1:p.Gly719=
XM_011537067.1:c.2247C>A XP_011535369.1:p.Gly749=
XM_011537068.1:c.2238C>A XP_011535370.1:p.Gly746=
XM_011537069.1:c.2208C>A XP_011535371.1:p.Gly736=
XM_011537070.1:c.2151C>A XP_011535372.1:p.Gly717=
XM_011537071.1:c.2118C>A XP_011535373.1:p.Gly706=
XM_011537072.1:c.2097C>A XP_011535374.1:p.Gly699=
XM_011537073.1:c.1890C>A XP_011535375.1:p.Gly630=
XM_011537074.1:c.1890C>A XP_011535376.1:p.Gly630=
XM_005267991.3:c.2304C>A XP_005268048.2:p.Gly768=
XM_005267992.3:c.2298C>A XP_005268049.2:p.Gly766=
XM_011537067.2:c.2247C>A XP_011535369.1:p.Gly749=
XM_011537069.2:c.2295C>A XP_011535371.2:p.Gly765=
XM_011537070.2:c.2151C>A XP_011535372.1:p.Gly717=
XM_011537071.2:c.2205C>A XP_011535373.2:p.Gly735=
XM_011537072.2:c.2097C>A XP_011535374.1:p.Gly699=
XM_017021582.1:c.2355C>A XP_016877071.1:p.Gly785=
XM_017021583.1:c.2346C>A XP_016877072.1:p.Gly782=
XM_017021584.1:c.2265C>A XP_016877073.1:p.Gly755=
XM_017021585.1:c.2214C>A XP_016877074.1:p.Gly738=
XM_017021586.1:c.1890C>A XP_016877075.1:p.Gly630=
XM_017021587.1:c.1890C>A XP_016877076.1:p.Gly630=
XM_017021588.1:c.1890C>A XP_016877077.1:p.Gly630=
NM_001164749.2:c.2196C>A MANE Select NP_001158221.1:p.Gly732=
NM_001165893.2:c.2106C>A NP_001159365.1:p.Gly702=
NM_022123.3:c.2100C>A NP_071406.1:p.Gly700=
NM_173159.3:c.2157C>A NP_775182.1:p.Gly719=
NM_001394988.1:c.2151C>A NP_001381917.1:p.Gly717=
NM_001394989.1:c.2097C>A NP_001381918.1:p.Gly699=