Canonical Allele Identifier: CA486093034
Gene: NPAS3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.34269553C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.33800347C>T , CM000676.2:g.33800347C>T GRCh38
NC_000014.8:g.34269553C>T , CM000676.1:g.34269553C>T GRCh37
NC_000014.7:g.33339304C>T NCBI36
NG_013036.1:g.866095C>T
NG_013036.2:g.866095C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356141.9:c.2040C>T MANE Select ENSP00000348460.4:p.Tyr680=
ENST00000551634.6:c.2049C>T ENSP00000448373.2:p.Tyr683=
ENST00000680362.1:c.1940C>T
ENST00000681323.1:c.793+2766C>T
ENST00000346562.6:c.1944C>T ENSP00000319610.5:p.Tyr648=
ENST00000356141.8:c.2040C>T ENSP00000348460.4:p.Tyr680=
ENST00000357798.9:c.2001C>T ENSP00000350446.5:p.Tyr667=
ENST00000548645.5:c.1950C>T ENSP00000448916.1:p.Tyr650=
ENST00000551492.5:c.2055C>T ENSP00000450392.1:p.Tyr685=
ENST00000551634.5:c.1962C>T ENSP00000448373.1:p.Tyr654=
NM_001164749.1:c.2040C>T NP_001158221.1:p.Tyr680=
NM_001165893.1:c.1950C>T NP_001159365.1:p.Tyr650=
NM_022123.2:c.1944C>T NP_071406.1:p.Tyr648=
NM_173159.2:c.2001C>T NP_775182.1:p.Tyr667=
XM_005267991.2:c.2061C>T XP_005268048.1:p.Tyr687=
XM_005267992.2:c.2055C>T XP_005268049.1:p.Tyr685=
XM_005267993.2:c.2001C>T XP_005268050.1:p.Tyr667=
XM_011537067.1:c.2091C>T XP_011535369.1:p.Tyr697=
XM_011537068.1:c.2082C>T XP_011535370.1:p.Tyr694=
XM_011537069.1:c.2052C>T XP_011535371.1:p.Tyr684=
XM_011537070.1:c.1995C>T XP_011535372.1:p.Tyr665=
XM_011537071.1:c.1962C>T XP_011535373.1:p.Tyr654=
XM_011537072.1:c.1941C>T XP_011535374.1:p.Tyr647=
XM_011537073.1:c.1734C>T XP_011535375.1:p.Tyr578=
XM_011537074.1:c.1734C>T XP_011535376.1:p.Tyr578=
XM_005267991.3:c.2148C>T XP_005268048.2:p.Tyr716=
XM_005267992.3:c.2142C>T XP_005268049.2:p.Tyr714=
XM_011537067.2:c.2091C>T XP_011535369.1:p.Tyr697=
XM_011537069.2:c.2139C>T XP_011535371.2:p.Tyr713=
XM_011537070.2:c.1995C>T XP_011535372.1:p.Tyr665=
XM_011537071.2:c.2049C>T XP_011535373.2:p.Tyr683=
XM_011537072.2:c.1941C>T XP_011535374.1:p.Tyr647=
XM_017021582.1:c.2199C>T XP_016877071.1:p.Tyr733=
XM_017021583.1:c.2190C>T XP_016877072.1:p.Tyr730=
XM_017021584.1:c.2109C>T XP_016877073.1:p.Tyr703=
XM_017021585.1:c.2058C>T XP_016877074.1:p.Tyr686=
XM_017021586.1:c.1734C>T XP_016877075.1:p.Tyr578=
XM_017021587.1:c.1734C>T XP_016877076.1:p.Tyr578=
XM_017021588.1:c.1734C>T XP_016877077.1:p.Tyr578=
NM_001164749.2:c.2040C>T MANE Select NP_001158221.1:p.Tyr680=
NM_001165893.2:c.1950C>T NP_001159365.1:p.Tyr650=
NM_022123.3:c.1944C>T NP_071406.1:p.Tyr648=
NM_173159.3:c.2001C>T NP_775182.1:p.Tyr667=
NM_001394988.1:c.1995C>T NP_001381917.1:p.Tyr665=
NM_001394989.1:c.1941C>T NP_001381918.1:p.Tyr647=