Canonical Allele Identifier: CA389413739

Gene: NPAS3

Linked Data

• gnomAD v4: 14-33800368-C-A
• COSMIC: COSM4050601 ; COSM4050602 ; COSM4050603
• MyVariant Identifiers: chr14:g.34269574C>A (hg19) ; chr14:g.33800368C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800368C>A , CM000676.2:g.33800368C>A	GRCh38
NC_000014.8:g.34269574C>A , CM000676.1:g.34269574C>A	GRCh37
NC_000014.7:g.33339325C>A	NCBI36
NG_013036.1:g.866116C>A
NG_013036.2:g.866116C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.2061C>A MANE Select	ENSP00000348460.4:p.Ser687Arg
ENST00000551634.6:c.2070C>A	ENSP00000448373.2:p.Ser690Arg
ENST00000680362.1:c.1961C>A
ENST00000681323.1:c.793+2787C>A
ENST00000346562.6:c.1965C>A	ENSP00000319610.5:p.Ser655Arg
ENST00000356141.8:c.2061C>A	ENSP00000348460.4:p.Ser687Arg
ENST00000357798.9:c.2022C>A	ENSP00000350446.5:p.Ser674Arg
ENST00000548645.5:c.1971C>A	ENSP00000448916.1:p.Ser657Arg
ENST00000551492.5:c.2076C>A	ENSP00000450392.1:p.Ser692Arg
ENST00000551634.5:c.1983C>A	ENSP00000448373.1:p.Ser661Arg
NM_001164749.1:c.2061C>A	NP_001158221.1:p.Ser687Arg
NM_001165893.1:c.1971C>A	NP_001159365.1:p.Ser657Arg
NM_022123.2:c.1965C>A	NP_071406.1:p.Ser655Arg
NM_173159.2:c.2022C>A	NP_775182.1:p.Ser674Arg
XM_005267991.2:c.2082C>A	XP_005268048.1:p.Ser694Arg
XM_005267992.2:c.2076C>A	XP_005268049.1:p.Ser692Arg
XM_005267993.2:c.2022C>A	XP_005268050.1:p.Ser674Arg
XM_011537067.1:c.2112C>A	XP_011535369.1:p.Ser704Arg
XM_011537068.1:c.2103C>A	XP_011535370.1:p.Ser701Arg
XM_011537069.1:c.2073C>A	XP_011535371.1:p.Ser691Arg
XM_011537070.1:c.2016C>A	XP_011535372.1:p.Ser672Arg
XM_011537071.1:c.1983C>A	XP_011535373.1:p.Ser661Arg
XM_011537072.1:c.1962C>A	XP_011535374.1:p.Ser654Arg
XM_011537073.1:c.1755C>A	XP_011535375.1:p.Ser585Arg
XM_011537074.1:c.1755C>A	XP_011535376.1:p.Ser585Arg
XM_005267991.3:c.2169C>A	XP_005268048.2:p.Ser723Arg
XM_005267992.3:c.2163C>A	XP_005268049.2:p.Ser721Arg
XM_011537067.2:c.2112C>A	XP_011535369.1:p.Ser704Arg
XM_011537069.2:c.2160C>A	XP_011535371.2:p.Ser720Arg
XM_011537070.2:c.2016C>A	XP_011535372.1:p.Ser672Arg
XM_011537071.2:c.2070C>A	XP_011535373.2:p.Ser690Arg
XM_011537072.2:c.1962C>A	XP_011535374.1:p.Ser654Arg
XM_017021582.1:c.2220C>A	XP_016877071.1:p.Ser740Arg
XM_017021583.1:c.2211C>A	XP_016877072.1:p.Ser737Arg
XM_017021584.1:c.2130C>A	XP_016877073.1:p.Ser710Arg
XM_017021585.1:c.2079C>A	XP_016877074.1:p.Ser693Arg
XM_017021586.1:c.1755C>A	XP_016877075.1:p.Ser585Arg
XM_017021587.1:c.1755C>A	XP_016877076.1:p.Ser585Arg
XM_017021588.1:c.1755C>A	XP_016877077.1:p.Ser585Arg
NM_001164749.2:c.2061C>A MANE Select	NP_001158221.1:p.Ser687Arg
NM_001165893.2:c.1971C>A	NP_001159365.1:p.Ser657Arg
NM_022123.3:c.1965C>A	NP_071406.1:p.Ser655Arg
NM_173159.3:c.2022C>A	NP_775182.1:p.Ser674Arg
NM_001394988.1:c.2016C>A	NP_001381917.1:p.Ser672Arg
NM_001394989.1:c.1962C>A	NP_001381918.1:p.Ser654Arg