Canonical Allele Identifier: CA389413332

Gene: NPAS3

Linked Data

• MyVariant Identifiers: chr14:g.34269486T>G (hg19) ; chr14:g.33800280T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800280T>G , CM000676.2:g.33800280T>G	GRCh38
NC_000014.8:g.34269486T>G , CM000676.1:g.34269486T>G	GRCh37
NC_000014.7:g.33339237T>G	NCBI36
NG_013036.1:g.866028T>G
NG_013036.2:g.866028T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1973T>G MANE Select	ENSP00000348460.4:p.Phe658Cys
ENST00000551634.6:c.1982T>G	ENSP00000448373.2:p.Phe661Cys
ENST00000680362.1:c.1873T>G
ENST00000681323.1:c.793+2699T>G
ENST00000346562.6:c.1877T>G	ENSP00000319610.5:p.Phe626Cys
ENST00000356141.8:c.1973T>G	ENSP00000348460.4:p.Phe658Cys
ENST00000357798.9:c.1934T>G	ENSP00000350446.5:p.Phe645Cys
ENST00000548645.5:c.1883T>G	ENSP00000448916.1:p.Phe628Cys
ENST00000551492.5:c.1988T>G	ENSP00000450392.1:p.Phe663Cys
ENST00000551634.5:c.1895T>G	ENSP00000448373.1:p.Phe632Cys
NM_001164749.1:c.1973T>G	NP_001158221.1:p.Phe658Cys
NM_001165893.1:c.1883T>G	NP_001159365.1:p.Phe628Cys
NM_022123.2:c.1877T>G	NP_071406.1:p.Phe626Cys
NM_173159.2:c.1934T>G	NP_775182.1:p.Phe645Cys
XM_005267991.2:c.1994T>G	XP_005268048.1:p.Phe665Cys
XM_005267992.2:c.1988T>G	XP_005268049.1:p.Phe663Cys
XM_005267993.2:c.1934T>G	XP_005268050.1:p.Phe645Cys
XM_011537067.1:c.2024T>G	XP_011535369.1:p.Phe675Cys
XM_011537068.1:c.2015T>G	XP_011535370.1:p.Phe672Cys
XM_011537069.1:c.1985T>G	XP_011535371.1:p.Phe662Cys
XM_011537070.1:c.1928T>G	XP_011535372.1:p.Phe643Cys
XM_011537071.1:c.1895T>G	XP_011535373.1:p.Phe632Cys
XM_011537072.1:c.1874T>G	XP_011535374.1:p.Phe625Cys
XM_011537073.1:c.1667T>G	XP_011535375.1:p.Phe556Cys
XM_011537074.1:c.1667T>G	XP_011535376.1:p.Phe556Cys
XM_005267991.3:c.2081T>G	XP_005268048.2:p.Phe694Cys
XM_005267992.3:c.2075T>G	XP_005268049.2:p.Phe692Cys
XM_011537067.2:c.2024T>G	XP_011535369.1:p.Phe675Cys
XM_011537069.2:c.2072T>G	XP_011535371.2:p.Phe691Cys
XM_011537070.2:c.1928T>G	XP_011535372.1:p.Phe643Cys
XM_011537071.2:c.1982T>G	XP_011535373.2:p.Phe661Cys
XM_011537072.2:c.1874T>G	XP_011535374.1:p.Phe625Cys
XM_017021582.1:c.2132T>G	XP_016877071.1:p.Phe711Cys
XM_017021583.1:c.2123T>G	XP_016877072.1:p.Phe708Cys
XM_017021584.1:c.2042T>G	XP_016877073.1:p.Phe681Cys
XM_017021585.1:c.1991T>G	XP_016877074.1:p.Phe664Cys
XM_017021586.1:c.1667T>G	XP_016877075.1:p.Phe556Cys
XM_017021587.1:c.1667T>G	XP_016877076.1:p.Phe556Cys
XM_017021588.1:c.1667T>G	XP_016877077.1:p.Phe556Cys
NM_001164749.2:c.1973T>G MANE Select	NP_001158221.1:p.Phe658Cys
NM_001165893.2:c.1883T>G	NP_001159365.1:p.Phe628Cys
NM_022123.3:c.1877T>G	NP_071406.1:p.Phe626Cys
NM_173159.3:c.1934T>G	NP_775182.1:p.Phe645Cys
NM_001394988.1:c.1928T>G	NP_001381917.1:p.Phe643Cys
NM_001394989.1:c.1874T>G	NP_001381918.1:p.Phe625Cys