Canonical Allele Identifier: CA389412193

Gene: NPAS3

Linked Data

• dbSNP Id: rs538895297
• gnomAD v4: 14-33800059-C-G
• MyVariant Identifiers: chr14:g.34269265C>G (hg19) ; chr14:g.33800059C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800059C>G , CM000676.2:g.33800059C>G	GRCh38
NC_000014.8:g.34269265C>G , CM000676.1:g.34269265C>G	GRCh37
NC_000014.7:g.33339016C>G	NCBI36
NG_013036.1:g.865807C>G
NG_013036.2:g.865807C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1752C>G MANE Select	ENSP00000348460.4:p.Asp584Glu
ENST00000551634.6:c.1761C>G	ENSP00000448373.2:p.Asp587Glu
ENST00000680362.1:c.1652C>G
ENST00000681323.1:c.793+2478C>G
ENST00000346562.6:c.1656C>G	ENSP00000319610.5:p.Asp552Glu
ENST00000356141.8:c.1752C>G	ENSP00000348460.4:p.Asp584Glu
ENST00000357798.9:c.1713C>G	ENSP00000350446.5:p.Asp571Glu
ENST00000548645.5:c.1662C>G	ENSP00000448916.1:p.Asp554Glu
ENST00000551492.5:c.1767C>G	ENSP00000450392.1:p.Asp589Glu
ENST00000551634.5:c.1674C>G	ENSP00000448373.1:p.Asp558Glu
NM_001164749.1:c.1752C>G	NP_001158221.1:p.Asp584Glu
NM_001165893.1:c.1662C>G	NP_001159365.1:p.Asp554Glu
NM_022123.2:c.1656C>G	NP_071406.1:p.Asp552Glu
NM_173159.2:c.1713C>G	NP_775182.1:p.Asp571Glu
XM_005267991.2:c.1773C>G	XP_005268048.1:p.Asp591Glu
XM_005267992.2:c.1767C>G	XP_005268049.1:p.Asp589Glu
XM_005267993.2:c.1713C>G	XP_005268050.1:p.Asp571Glu
XM_011537067.1:c.1803C>G	XP_011535369.1:p.Asp601Glu
XM_011537068.1:c.1794C>G	XP_011535370.1:p.Asp598Glu
XM_011537069.1:c.1764C>G	XP_011535371.1:p.Asp588Glu
XM_011537070.1:c.1707C>G	XP_011535372.1:p.Asp569Glu
XM_011537071.1:c.1674C>G	XP_011535373.1:p.Asp558Glu
XM_011537072.1:c.1653C>G	XP_011535374.1:p.Asp551Glu
XM_011537073.1:c.1446C>G	XP_011535375.1:p.Asp482Glu
XM_011537074.1:c.1446C>G	XP_011535376.1:p.Asp482Glu
XM_005267991.3:c.1860C>G	XP_005268048.2:p.Asp620Glu
XM_005267992.3:c.1854C>G	XP_005268049.2:p.Asp618Glu
XM_011537067.2:c.1803C>G	XP_011535369.1:p.Asp601Glu
XM_011537069.2:c.1851C>G	XP_011535371.2:p.Asp617Glu
XM_011537070.2:c.1707C>G	XP_011535372.1:p.Asp569Glu
XM_011537071.2:c.1761C>G	XP_011535373.2:p.Asp587Glu
XM_011537072.2:c.1653C>G	XP_011535374.1:p.Asp551Glu
XM_017021582.1:c.1911C>G	XP_016877071.1:p.Asp637Glu
XM_017021583.1:c.1902C>G	XP_016877072.1:p.Asp634Glu
XM_017021584.1:c.1821C>G	XP_016877073.1:p.Asp607Glu
XM_017021585.1:c.1770C>G	XP_016877074.1:p.Asp590Glu
XM_017021586.1:c.1446C>G	XP_016877075.1:p.Asp482Glu
XM_017021587.1:c.1446C>G	XP_016877076.1:p.Asp482Glu
XM_017021588.1:c.1446C>G	XP_016877077.1:p.Asp482Glu
NM_001164749.2:c.1752C>G MANE Select	NP_001158221.1:p.Asp584Glu
NM_001165893.2:c.1662C>G	NP_001159365.1:p.Asp554Glu
NM_022123.3:c.1656C>G	NP_071406.1:p.Asp552Glu
NM_173159.3:c.1713C>G	NP_775182.1:p.Asp571Glu
NM_001394988.1:c.1707C>G	NP_001381917.1:p.Asp569Glu
NM_001394989.1:c.1653C>G	NP_001381918.1:p.Asp551Glu