Canonical Allele Identifier: CA486093232
Gene: NPAS3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.34269691C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.33800485C>A , CM000676.2:g.33800485C>A GRCh38
NC_000014.8:g.34269691C>A , CM000676.1:g.34269691C>A GRCh37
NC_000014.7:g.33339442C>A NCBI36
NG_013036.1:g.866233C>A
NG_013036.2:g.866233C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000356141.9:c.2178C>A MANE Select ENSP00000348460.4:p.Ala726=
ENST00000551634.6:c.2187C>A ENSP00000448373.2:p.Ala729=
ENST00000680362.1:c.2078C>A
ENST00000681323.1:c.793+2904C>A
ENST00000346562.6:c.2082C>A ENSP00000319610.5:p.Ala694=
ENST00000356141.8:c.2178C>A ENSP00000348460.4:p.Ala726=
ENST00000357798.9:c.2139C>A ENSP00000350446.5:p.Ala713=
ENST00000548645.5:c.2088C>A ENSP00000448916.1:p.Ala696=
ENST00000551492.5:c.2193C>A ENSP00000450392.1:p.Ala731=
ENST00000551634.5:c.2100C>A ENSP00000448373.1:p.Ala700=
NM_001164749.1:c.2178C>A NP_001158221.1:p.Ala726=
NM_001165893.1:c.2088C>A NP_001159365.1:p.Ala696=
NM_022123.2:c.2082C>A NP_071406.1:p.Ala694=
NM_173159.2:c.2139C>A NP_775182.1:p.Ala713=
XM_005267991.2:c.2199C>A XP_005268048.1:p.Ala733=
XM_005267992.2:c.2193C>A XP_005268049.1:p.Ala731=
XM_005267993.2:c.2139C>A XP_005268050.1:p.Ala713=
XM_011537067.1:c.2229C>A XP_011535369.1:p.Ala743=
XM_011537068.1:c.2220C>A XP_011535370.1:p.Ala740=
XM_011537069.1:c.2190C>A XP_011535371.1:p.Ala730=
XM_011537070.1:c.2133C>A XP_011535372.1:p.Ala711=
XM_011537071.1:c.2100C>A XP_011535373.1:p.Ala700=
XM_011537072.1:c.2079C>A XP_011535374.1:p.Ala693=
XM_011537073.1:c.1872C>A XP_011535375.1:p.Ala624=
XM_011537074.1:c.1872C>A XP_011535376.1:p.Ala624=
XM_005267991.3:c.2286C>A XP_005268048.2:p.Ala762=
XM_005267992.3:c.2280C>A XP_005268049.2:p.Ala760=
XM_011537067.2:c.2229C>A XP_011535369.1:p.Ala743=
XM_011537069.2:c.2277C>A XP_011535371.2:p.Ala759=
XM_011537070.2:c.2133C>A XP_011535372.1:p.Ala711=
XM_011537071.2:c.2187C>A XP_011535373.2:p.Ala729=
XM_011537072.2:c.2079C>A XP_011535374.1:p.Ala693=
XM_017021582.1:c.2337C>A XP_016877071.1:p.Ala779=
XM_017021583.1:c.2328C>A XP_016877072.1:p.Ala776=
XM_017021584.1:c.2247C>A XP_016877073.1:p.Ala749=
XM_017021585.1:c.2196C>A XP_016877074.1:p.Ala732=
XM_017021586.1:c.1872C>A XP_016877075.1:p.Ala624=
XM_017021587.1:c.1872C>A XP_016877076.1:p.Ala624=
XM_017021588.1:c.1872C>A XP_016877077.1:p.Ala624=
NM_001164749.2:c.2178C>A MANE Select NP_001158221.1:p.Ala726=
NM_001165893.2:c.2088C>A NP_001159365.1:p.Ala696=
NM_022123.3:c.2082C>A NP_071406.1:p.Ala694=
NM_173159.3:c.2139C>A NP_775182.1:p.Ala713=
NM_001394988.1:c.2133C>A NP_001381917.1:p.Ala711=
NM_001394989.1:c.2079C>A NP_001381918.1:p.Ala693=