Canonical Allele Identifier: CA389413430

Gene: NPAS3

Linked Data

• gnomAD v4: 14-33800301-G-A
• MyVariant Identifiers: chr14:g.34269507G>A (hg19) ; chr14:g.33800301G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800301G>A , CM000676.2:g.33800301G>A	GRCh38
NC_000014.8:g.34269507G>A , CM000676.1:g.34269507G>A	GRCh37
NC_000014.7:g.33339258G>A	NCBI36
NG_013036.1:g.866049G>A
NG_013036.2:g.866049G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1994G>A MANE Select	ENSP00000348460.4:p.Trp665Ter
ENST00000551634.6:c.2003G>A	ENSP00000448373.2:p.Trp668Ter
ENST00000680362.1:c.1894G>A
ENST00000681323.1:c.793+2720G>A
ENST00000346562.6:c.1898G>A	ENSP00000319610.5:p.Trp633Ter
ENST00000356141.8:c.1994G>A	ENSP00000348460.4:p.Trp665Ter
ENST00000357798.9:c.1955G>A	ENSP00000350446.5:p.Trp652Ter
ENST00000548645.5:c.1904G>A	ENSP00000448916.1:p.Trp635Ter
ENST00000551492.5:c.2009G>A	ENSP00000450392.1:p.Trp670Ter
ENST00000551634.5:c.1916G>A	ENSP00000448373.1:p.Trp639Ter
NM_001164749.1:c.1994G>A	NP_001158221.1:p.Trp665Ter
NM_001165893.1:c.1904G>A	NP_001159365.1:p.Trp635Ter
NM_022123.2:c.1898G>A	NP_071406.1:p.Trp633Ter
NM_173159.2:c.1955G>A	NP_775182.1:p.Trp652Ter
XM_005267991.2:c.2015G>A	XP_005268048.1:p.Trp672Ter
XM_005267992.2:c.2009G>A	XP_005268049.1:p.Trp670Ter
XM_005267993.2:c.1955G>A	XP_005268050.1:p.Trp652Ter
XM_011537067.1:c.2045G>A	XP_011535369.1:p.Trp682Ter
XM_011537068.1:c.2036G>A	XP_011535370.1:p.Trp679Ter
XM_011537069.1:c.2006G>A	XP_011535371.1:p.Trp669Ter
XM_011537070.1:c.1949G>A	XP_011535372.1:p.Trp650Ter
XM_011537071.1:c.1916G>A	XP_011535373.1:p.Trp639Ter
XM_011537072.1:c.1895G>A	XP_011535374.1:p.Trp632Ter
XM_011537073.1:c.1688G>A	XP_011535375.1:p.Trp563Ter
XM_011537074.1:c.1688G>A	XP_011535376.1:p.Trp563Ter
XM_005267991.3:c.2102G>A	XP_005268048.2:p.Trp701Ter
XM_005267992.3:c.2096G>A	XP_005268049.2:p.Trp699Ter
XM_011537067.2:c.2045G>A	XP_011535369.1:p.Trp682Ter
XM_011537069.2:c.2093G>A	XP_011535371.2:p.Trp698Ter
XM_011537070.2:c.1949G>A	XP_011535372.1:p.Trp650Ter
XM_011537071.2:c.2003G>A	XP_011535373.2:p.Trp668Ter
XM_011537072.2:c.1895G>A	XP_011535374.1:p.Trp632Ter
XM_017021582.1:c.2153G>A	XP_016877071.1:p.Trp718Ter
XM_017021583.1:c.2144G>A	XP_016877072.1:p.Trp715Ter
XM_017021584.1:c.2063G>A	XP_016877073.1:p.Trp688Ter
XM_017021585.1:c.2012G>A	XP_016877074.1:p.Trp671Ter
XM_017021586.1:c.1688G>A	XP_016877075.1:p.Trp563Ter
XM_017021587.1:c.1688G>A	XP_016877076.1:p.Trp563Ter
XM_017021588.1:c.1688G>A	XP_016877077.1:p.Trp563Ter
NM_001164749.2:c.1994G>A MANE Select	NP_001158221.1:p.Trp665Ter
NM_001165893.2:c.1904G>A	NP_001159365.1:p.Trp635Ter
NM_022123.3:c.1898G>A	NP_071406.1:p.Trp633Ter
NM_173159.3:c.1955G>A	NP_775182.1:p.Trp652Ter
NM_001394988.1:c.1949G>A	NP_001381917.1:p.Trp650Ter
NM_001394989.1:c.1895G>A	NP_001381918.1:p.Trp632Ter