Canonical Allele Identifier: CA7150880

Gene: NPAS3

Linked Data

• dbSNP Id: rs765201497
• ExAC: 14:34269324 G / A
• gnomAD v2: 14-34269324-G-A
• gnomAD v3: 14-33800118-G-A
• gnomAD v4: 14-33800118-G-A
• MyVariant Identifiers: chr14:g.34269324G>A (hg19) ; chr14:g.33800118G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800118G>A , CM000676.2:g.33800118G>A	GRCh38
NC_000014.8:g.34269324G>A , CM000676.1:g.34269324G>A	GRCh37
NC_000014.7:g.33339075G>A	NCBI36
NG_013036.1:g.865866G>A
NG_013036.2:g.865866G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1811G>A MANE Select	ENSP00000348460.4:p.Arg604Gln
ENST00000551634.6:c.1820G>A	ENSP00000448373.2:p.Arg607Gln
ENST00000680362.1:c.1711G>A
ENST00000681323.1:c.793+2537G>A
ENST00000346562.6:c.1715G>A	ENSP00000319610.5:p.Arg572Gln
ENST00000356141.8:c.1811G>A	ENSP00000348460.4:p.Arg604Gln
ENST00000357798.9:c.1772G>A	ENSP00000350446.5:p.Arg591Gln
ENST00000548645.5:c.1721G>A	ENSP00000448916.1:p.Arg574Gln
ENST00000551492.5:c.1826G>A	ENSP00000450392.1:p.Arg609Gln
ENST00000551634.5:c.1733G>A	ENSP00000448373.1:p.Arg578Gln
NM_001164749.1:c.1811G>A	NP_001158221.1:p.Arg604Gln
NM_001165893.1:c.1721G>A	NP_001159365.1:p.Arg574Gln
NM_022123.2:c.1715G>A	NP_071406.1:p.Arg572Gln
NM_173159.2:c.1772G>A	NP_775182.1:p.Arg591Gln
XM_005267991.2:c.1832G>A	XP_005268048.1:p.Arg611Gln
XM_005267992.2:c.1826G>A	XP_005268049.1:p.Arg609Gln
XM_005267993.2:c.1772G>A	XP_005268050.1:p.Arg591Gln
XM_011537067.1:c.1862G>A	XP_011535369.1:p.Arg621Gln
XM_011537068.1:c.1853G>A	XP_011535370.1:p.Arg618Gln
XM_011537069.1:c.1823G>A	XP_011535371.1:p.Arg608Gln
XM_011537070.1:c.1766G>A	XP_011535372.1:p.Arg589Gln
XM_011537071.1:c.1733G>A	XP_011535373.1:p.Arg578Gln
XM_011537072.1:c.1712G>A	XP_011535374.1:p.Arg571Gln
XM_011537073.1:c.1505G>A	XP_011535375.1:p.Arg502Gln
XM_011537074.1:c.1505G>A	XP_011535376.1:p.Arg502Gln
XM_005267991.3:c.1919G>A	XP_005268048.2:p.Arg640Gln
XM_005267992.3:c.1913G>A	XP_005268049.2:p.Arg638Gln
XM_011537067.2:c.1862G>A	XP_011535369.1:p.Arg621Gln
XM_011537069.2:c.1910G>A	XP_011535371.2:p.Arg637Gln
XM_011537070.2:c.1766G>A	XP_011535372.1:p.Arg589Gln
XM_011537071.2:c.1820G>A	XP_011535373.2:p.Arg607Gln
XM_011537072.2:c.1712G>A	XP_011535374.1:p.Arg571Gln
XM_017021582.1:c.1970G>A	XP_016877071.1:p.Arg657Gln
XM_017021583.1:c.1961G>A	XP_016877072.1:p.Arg654Gln
XM_017021584.1:c.1880G>A	XP_016877073.1:p.Arg627Gln
XM_017021585.1:c.1829G>A	XP_016877074.1:p.Arg610Gln
XM_017021586.1:c.1505G>A	XP_016877075.1:p.Arg502Gln
XM_017021587.1:c.1505G>A	XP_016877076.1:p.Arg502Gln
XM_017021588.1:c.1505G>A	XP_016877077.1:p.Arg502Gln
NM_001164749.2:c.1811G>A MANE Select	NP_001158221.1:p.Arg604Gln
NM_001165893.2:c.1721G>A	NP_001159365.1:p.Arg574Gln
NM_022123.3:c.1715G>A	NP_071406.1:p.Arg572Gln
NM_173159.3:c.1772G>A	NP_775182.1:p.Arg591Gln
NM_001394988.1:c.1766G>A	NP_001381917.1:p.Arg589Gln
NM_001394989.1:c.1712G>A	NP_001381918.1:p.Arg571Gln