Canonical Allele Identifier: CA7150892

Gene: NPAS3

Linked Data

• dbSNP Id: rs371133456
• ExAC: 14:34269350 A / T
• gnomAD v2: 14-34269350-A-T
• MyVariant Identifiers: chr14:g.34269350A>T (hg19) ; chr14:g.33800144A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800144A>T , CM000676.2:g.33800144A>T	GRCh38
NC_000014.8:g.34269350A>T , CM000676.1:g.34269350A>T	GRCh37
NC_000014.7:g.33339101A>T	NCBI36
NG_013036.1:g.865892A>T
NG_013036.2:g.865892A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1837A>T MANE Select	ENSP00000348460.4:p.Ser613Cys
ENST00000551634.6:c.1846A>T	ENSP00000448373.2:p.Ser616Cys
ENST00000680362.1:c.1737A>T
ENST00000681323.1:c.793+2563A>T
ENST00000346562.6:c.1741A>T	ENSP00000319610.5:p.Ser581Cys
ENST00000356141.8:c.1837A>T	ENSP00000348460.4:p.Ser613Cys
ENST00000357798.9:c.1798A>T	ENSP00000350446.5:p.Ser600Cys
ENST00000548645.5:c.1747A>T	ENSP00000448916.1:p.Ser583Cys
ENST00000551492.5:c.1852A>T	ENSP00000450392.1:p.Ser618Cys
ENST00000551634.5:c.1759A>T	ENSP00000448373.1:p.Ser587Cys
NM_001164749.1:c.1837A>T	NP_001158221.1:p.Ser613Cys
NM_001165893.1:c.1747A>T	NP_001159365.1:p.Ser583Cys
NM_022123.2:c.1741A>T	NP_071406.1:p.Ser581Cys
NM_173159.2:c.1798A>T	NP_775182.1:p.Ser600Cys
XM_005267991.2:c.1858A>T	XP_005268048.1:p.Ser620Cys
XM_005267992.2:c.1852A>T	XP_005268049.1:p.Ser618Cys
XM_005267993.2:c.1798A>T	XP_005268050.1:p.Ser600Cys
XM_011537067.1:c.1888A>T	XP_011535369.1:p.Ser630Cys
XM_011537068.1:c.1879A>T	XP_011535370.1:p.Ser627Cys
XM_011537069.1:c.1849A>T	XP_011535371.1:p.Ser617Cys
XM_011537070.1:c.1792A>T	XP_011535372.1:p.Ser598Cys
XM_011537071.1:c.1759A>T	XP_011535373.1:p.Ser587Cys
XM_011537072.1:c.1738A>T	XP_011535374.1:p.Ser580Cys
XM_011537073.1:c.1531A>T	XP_011535375.1:p.Ser511Cys
XM_011537074.1:c.1531A>T	XP_011535376.1:p.Ser511Cys
XM_005267991.3:c.1945A>T	XP_005268048.2:p.Ser649Cys
XM_005267992.3:c.1939A>T	XP_005268049.2:p.Ser647Cys
XM_011537067.2:c.1888A>T	XP_011535369.1:p.Ser630Cys
XM_011537069.2:c.1936A>T	XP_011535371.2:p.Ser646Cys
XM_011537070.2:c.1792A>T	XP_011535372.1:p.Ser598Cys
XM_011537071.2:c.1846A>T	XP_011535373.2:p.Ser616Cys
XM_011537072.2:c.1738A>T	XP_011535374.1:p.Ser580Cys
XM_017021582.1:c.1996A>T	XP_016877071.1:p.Ser666Cys
XM_017021583.1:c.1987A>T	XP_016877072.1:p.Ser663Cys
XM_017021584.1:c.1906A>T	XP_016877073.1:p.Ser636Cys
XM_017021585.1:c.1855A>T	XP_016877074.1:p.Ser619Cys
XM_017021586.1:c.1531A>T	XP_016877075.1:p.Ser511Cys
XM_017021587.1:c.1531A>T	XP_016877076.1:p.Ser511Cys
XM_017021588.1:c.1531A>T	XP_016877077.1:p.Ser511Cys
NM_001164749.2:c.1837A>T MANE Select	NP_001158221.1:p.Ser613Cys
NM_001165893.2:c.1747A>T	NP_001159365.1:p.Ser583Cys
NM_022123.3:c.1741A>T	NP_071406.1:p.Ser581Cys
NM_173159.3:c.1798A>T	NP_775182.1:p.Ser600Cys
NM_001394988.1:c.1792A>T	NP_001381917.1:p.Ser598Cys
NM_001394989.1:c.1738A>T	NP_001381918.1:p.Ser580Cys