Canonical Allele Identifier: CA389413281

Gene: NPAS3

Linked Data

• dbSNP Id: rs2063657105
• gnomAD v4: 14-33800269-A-T
• MyVariant Identifiers: chr14:g.34269475A>T (hg19) ; chr14:g.33800269A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800269A>T , CM000676.2:g.33800269A>T	GRCh38
NC_000014.8:g.34269475A>T , CM000676.1:g.34269475A>T	GRCh37
NC_000014.7:g.33339226A>T	NCBI36
NG_013036.1:g.866017A>T
NG_013036.2:g.866017A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1962A>T MANE Select	ENSP00000348460.4:p.Glu654Asp
ENST00000551634.6:c.1971A>T	ENSP00000448373.2:p.Glu657Asp
ENST00000680362.1:c.1862A>T
ENST00000681323.1:c.793+2688A>T
ENST00000346562.6:c.1866A>T	ENSP00000319610.5:p.Glu622Asp
ENST00000356141.8:c.1962A>T	ENSP00000348460.4:p.Glu654Asp
ENST00000357798.9:c.1923A>T	ENSP00000350446.5:p.Glu641Asp
ENST00000548645.5:c.1872A>T	ENSP00000448916.1:p.Glu624Asp
ENST00000551492.5:c.1977A>T	ENSP00000450392.1:p.Glu659Asp
ENST00000551634.5:c.1884A>T	ENSP00000448373.1:p.Glu628Asp
NM_001164749.1:c.1962A>T	NP_001158221.1:p.Glu654Asp
NM_001165893.1:c.1872A>T	NP_001159365.1:p.Glu624Asp
NM_022123.2:c.1866A>T	NP_071406.1:p.Glu622Asp
NM_173159.2:c.1923A>T	NP_775182.1:p.Glu641Asp
XM_005267991.2:c.1983A>T	XP_005268048.1:p.Glu661Asp
XM_005267992.2:c.1977A>T	XP_005268049.1:p.Glu659Asp
XM_005267993.2:c.1923A>T	XP_005268050.1:p.Glu641Asp
XM_011537067.1:c.2013A>T	XP_011535369.1:p.Glu671Asp
XM_011537068.1:c.2004A>T	XP_011535370.1:p.Glu668Asp
XM_011537069.1:c.1974A>T	XP_011535371.1:p.Glu658Asp
XM_011537070.1:c.1917A>T	XP_011535372.1:p.Glu639Asp
XM_011537071.1:c.1884A>T	XP_011535373.1:p.Glu628Asp
XM_011537072.1:c.1863A>T	XP_011535374.1:p.Glu621Asp
XM_011537073.1:c.1656A>T	XP_011535375.1:p.Glu552Asp
XM_011537074.1:c.1656A>T	XP_011535376.1:p.Glu552Asp
XM_005267991.3:c.2070A>T	XP_005268048.2:p.Glu690Asp
XM_005267992.3:c.2064A>T	XP_005268049.2:p.Glu688Asp
XM_011537067.2:c.2013A>T	XP_011535369.1:p.Glu671Asp
XM_011537069.2:c.2061A>T	XP_011535371.2:p.Glu687Asp
XM_011537070.2:c.1917A>T	XP_011535372.1:p.Glu639Asp
XM_011537071.2:c.1971A>T	XP_011535373.2:p.Glu657Asp
XM_011537072.2:c.1863A>T	XP_011535374.1:p.Glu621Asp
XM_017021582.1:c.2121A>T	XP_016877071.1:p.Glu707Asp
XM_017021583.1:c.2112A>T	XP_016877072.1:p.Glu704Asp
XM_017021584.1:c.2031A>T	XP_016877073.1:p.Glu677Asp
XM_017021585.1:c.1980A>T	XP_016877074.1:p.Glu660Asp
XM_017021586.1:c.1656A>T	XP_016877075.1:p.Glu552Asp
XM_017021587.1:c.1656A>T	XP_016877076.1:p.Glu552Asp
XM_017021588.1:c.1656A>T	XP_016877077.1:p.Glu552Asp
NM_001164749.2:c.1962A>T MANE Select	NP_001158221.1:p.Glu654Asp
NM_001165893.2:c.1872A>T	NP_001159365.1:p.Glu624Asp
NM_022123.3:c.1866A>T	NP_071406.1:p.Glu622Asp
NM_173159.3:c.1923A>T	NP_775182.1:p.Glu641Asp
NM_001394988.1:c.1917A>T	NP_001381917.1:p.Glu639Asp
NM_001394989.1:c.1863A>T	NP_001381918.1:p.Glu621Asp