Canonical Allele Identifier: CA486093031
Gene: NPAS3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.34269547C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.33800341C>A , CM000676.2:g.33800341C>A GRCh38
NC_000014.8:g.34269547C>A , CM000676.1:g.34269547C>A GRCh37
NC_000014.7:g.33339298C>A NCBI36
NG_013036.1:g.866089C>A
NG_013036.2:g.866089C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356141.9:c.2034C>A MANE Select ENSP00000348460.4:p.Ser678=
ENST00000551634.6:c.2043C>A ENSP00000448373.2:p.Ser681=
ENST00000680362.1:c.1934C>A
ENST00000681323.1:c.793+2760C>A
ENST00000346562.6:c.1938C>A ENSP00000319610.5:p.Ser646=
ENST00000356141.8:c.2034C>A ENSP00000348460.4:p.Ser678=
ENST00000357798.9:c.1995C>A ENSP00000350446.5:p.Ser665=
ENST00000548645.5:c.1944C>A ENSP00000448916.1:p.Ser648=
ENST00000551492.5:c.2049C>A ENSP00000450392.1:p.Ser683=
ENST00000551634.5:c.1956C>A ENSP00000448373.1:p.Ser652=
NM_001164749.1:c.2034C>A NP_001158221.1:p.Ser678=
NM_001165893.1:c.1944C>A NP_001159365.1:p.Ser648=
NM_022123.2:c.1938C>A NP_071406.1:p.Ser646=
NM_173159.2:c.1995C>A NP_775182.1:p.Ser665=
XM_005267991.2:c.2055C>A XP_005268048.1:p.Ser685=
XM_005267992.2:c.2049C>A XP_005268049.1:p.Ser683=
XM_005267993.2:c.1995C>A XP_005268050.1:p.Ser665=
XM_011537067.1:c.2085C>A XP_011535369.1:p.Ser695=
XM_011537068.1:c.2076C>A XP_011535370.1:p.Ser692=
XM_011537069.1:c.2046C>A XP_011535371.1:p.Ser682=
XM_011537070.1:c.1989C>A XP_011535372.1:p.Ser663=
XM_011537071.1:c.1956C>A XP_011535373.1:p.Ser652=
XM_011537072.1:c.1935C>A XP_011535374.1:p.Ser645=
XM_011537073.1:c.1728C>A XP_011535375.1:p.Ser576=
XM_011537074.1:c.1728C>A XP_011535376.1:p.Ser576=
XM_005267991.3:c.2142C>A XP_005268048.2:p.Ser714=
XM_005267992.3:c.2136C>A XP_005268049.2:p.Ser712=
XM_011537067.2:c.2085C>A XP_011535369.1:p.Ser695=
XM_011537069.2:c.2133C>A XP_011535371.2:p.Ser711=
XM_011537070.2:c.1989C>A XP_011535372.1:p.Ser663=
XM_011537071.2:c.2043C>A XP_011535373.2:p.Ser681=
XM_011537072.2:c.1935C>A XP_011535374.1:p.Ser645=
XM_017021582.1:c.2193C>A XP_016877071.1:p.Ser731=
XM_017021583.1:c.2184C>A XP_016877072.1:p.Ser728=
XM_017021584.1:c.2103C>A XP_016877073.1:p.Ser701=
XM_017021585.1:c.2052C>A XP_016877074.1:p.Ser684=
XM_017021586.1:c.1728C>A XP_016877075.1:p.Ser576=
XM_017021587.1:c.1728C>A XP_016877076.1:p.Ser576=
XM_017021588.1:c.1728C>A XP_016877077.1:p.Ser576=
NM_001164749.2:c.2034C>A MANE Select NP_001158221.1:p.Ser678=
NM_001165893.2:c.1944C>A NP_001159365.1:p.Ser648=
NM_022123.3:c.1938C>A NP_071406.1:p.Ser646=
NM_173159.3:c.1995C>A NP_775182.1:p.Ser665=
NM_001394988.1:c.1989C>A NP_001381917.1:p.Ser663=
NM_001394989.1:c.1935C>A NP_001381918.1:p.Ser645=