Canonical Allele Identifier: CA389412254

Gene: NPAS3

Linked Data

• MyVariant Identifiers: chr14:g.34269276A>T (hg19) ; chr14:g.33800070A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800070A>T , CM000676.2:g.33800070A>T	GRCh38
NC_000014.8:g.34269276A>T , CM000676.1:g.34269276A>T	GRCh37
NC_000014.7:g.33339027A>T	NCBI36
NG_013036.1:g.865818A>T
NG_013036.2:g.865818A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1763A>T MANE Select	ENSP00000348460.4:p.Glu588Val
ENST00000551634.6:c.1772A>T	ENSP00000448373.2:p.Glu591Val
ENST00000680362.1:c.1663A>T
ENST00000681323.1:c.793+2489A>T
ENST00000346562.6:c.1667A>T	ENSP00000319610.5:p.Glu556Val
ENST00000356141.8:c.1763A>T	ENSP00000348460.4:p.Glu588Val
ENST00000357798.9:c.1724A>T	ENSP00000350446.5:p.Glu575Val
ENST00000548645.5:c.1673A>T	ENSP00000448916.1:p.Glu558Val
ENST00000551492.5:c.1778A>T	ENSP00000450392.1:p.Glu593Val
ENST00000551634.5:c.1685A>T	ENSP00000448373.1:p.Glu562Val
NM_001164749.1:c.1763A>T	NP_001158221.1:p.Glu588Val
NM_001165893.1:c.1673A>T	NP_001159365.1:p.Glu558Val
NM_022123.2:c.1667A>T	NP_071406.1:p.Glu556Val
NM_173159.2:c.1724A>T	NP_775182.1:p.Glu575Val
XM_005267991.2:c.1784A>T	XP_005268048.1:p.Glu595Val
XM_005267992.2:c.1778A>T	XP_005268049.1:p.Glu593Val
XM_005267993.2:c.1724A>T	XP_005268050.1:p.Glu575Val
XM_011537067.1:c.1814A>T	XP_011535369.1:p.Glu605Val
XM_011537068.1:c.1805A>T	XP_011535370.1:p.Glu602Val
XM_011537069.1:c.1775A>T	XP_011535371.1:p.Glu592Val
XM_011537070.1:c.1718A>T	XP_011535372.1:p.Glu573Val
XM_011537071.1:c.1685A>T	XP_011535373.1:p.Glu562Val
XM_011537072.1:c.1664A>T	XP_011535374.1:p.Glu555Val
XM_011537073.1:c.1457A>T	XP_011535375.1:p.Glu486Val
XM_011537074.1:c.1457A>T	XP_011535376.1:p.Glu486Val
XM_005267991.3:c.1871A>T	XP_005268048.2:p.Glu624Val
XM_005267992.3:c.1865A>T	XP_005268049.2:p.Glu622Val
XM_011537067.2:c.1814A>T	XP_011535369.1:p.Glu605Val
XM_011537069.2:c.1862A>T	XP_011535371.2:p.Glu621Val
XM_011537070.2:c.1718A>T	XP_011535372.1:p.Glu573Val
XM_011537071.2:c.1772A>T	XP_011535373.2:p.Glu591Val
XM_011537072.2:c.1664A>T	XP_011535374.1:p.Glu555Val
XM_017021582.1:c.1922A>T	XP_016877071.1:p.Glu641Val
XM_017021583.1:c.1913A>T	XP_016877072.1:p.Glu638Val
XM_017021584.1:c.1832A>T	XP_016877073.1:p.Glu611Val
XM_017021585.1:c.1781A>T	XP_016877074.1:p.Glu594Val
XM_017021586.1:c.1457A>T	XP_016877075.1:p.Glu486Val
XM_017021587.1:c.1457A>T	XP_016877076.1:p.Glu486Val
XM_017021588.1:c.1457A>T	XP_016877077.1:p.Glu486Val
NM_001164749.2:c.1763A>T MANE Select	NP_001158221.1:p.Glu588Val
NM_001165893.2:c.1673A>T	NP_001159365.1:p.Glu558Val
NM_022123.3:c.1667A>T	NP_071406.1:p.Glu556Val
NM_173159.3:c.1724A>T	NP_775182.1:p.Glu575Val
NM_001394988.1:c.1718A>T	NP_001381917.1:p.Glu573Val
NM_001394989.1:c.1664A>T	NP_001381918.1:p.Glu555Val