Canonical Allele Identifier: CA389413429

Gene: NPAS3

Linked Data

• MyVariant Identifiers: chr14:g.34269506T>C (hg19) ; chr14:g.33800300T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800300T>C , CM000676.2:g.33800300T>C	GRCh38
NC_000014.8:g.34269506T>C , CM000676.1:g.34269506T>C	GRCh37
NC_000014.7:g.33339257T>C	NCBI36
NG_013036.1:g.866048T>C
NG_013036.2:g.866048T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1993T>C MANE Select	ENSP00000348460.4:p.Trp665Arg
ENST00000551634.6:c.2002T>C	ENSP00000448373.2:p.Trp668Arg
ENST00000680362.1:c.1893T>C
ENST00000681323.1:c.793+2719T>C
ENST00000346562.6:c.1897T>C	ENSP00000319610.5:p.Trp633Arg
ENST00000356141.8:c.1993T>C	ENSP00000348460.4:p.Trp665Arg
ENST00000357798.9:c.1954T>C	ENSP00000350446.5:p.Trp652Arg
ENST00000548645.5:c.1903T>C	ENSP00000448916.1:p.Trp635Arg
ENST00000551492.5:c.2008T>C	ENSP00000450392.1:p.Trp670Arg
ENST00000551634.5:c.1915T>C	ENSP00000448373.1:p.Trp639Arg
NM_001164749.1:c.1993T>C	NP_001158221.1:p.Trp665Arg
NM_001165893.1:c.1903T>C	NP_001159365.1:p.Trp635Arg
NM_022123.2:c.1897T>C	NP_071406.1:p.Trp633Arg
NM_173159.2:c.1954T>C	NP_775182.1:p.Trp652Arg
XM_005267991.2:c.2014T>C	XP_005268048.1:p.Trp672Arg
XM_005267992.2:c.2008T>C	XP_005268049.1:p.Trp670Arg
XM_005267993.2:c.1954T>C	XP_005268050.1:p.Trp652Arg
XM_011537067.1:c.2044T>C	XP_011535369.1:p.Trp682Arg
XM_011537068.1:c.2035T>C	XP_011535370.1:p.Trp679Arg
XM_011537069.1:c.2005T>C	XP_011535371.1:p.Trp669Arg
XM_011537070.1:c.1948T>C	XP_011535372.1:p.Trp650Arg
XM_011537071.1:c.1915T>C	XP_011535373.1:p.Trp639Arg
XM_011537072.1:c.1894T>C	XP_011535374.1:p.Trp632Arg
XM_011537073.1:c.1687T>C	XP_011535375.1:p.Trp563Arg
XM_011537074.1:c.1687T>C	XP_011535376.1:p.Trp563Arg
XM_005267991.3:c.2101T>C	XP_005268048.2:p.Trp701Arg
XM_005267992.3:c.2095T>C	XP_005268049.2:p.Trp699Arg
XM_011537067.2:c.2044T>C	XP_011535369.1:p.Trp682Arg
XM_011537069.2:c.2092T>C	XP_011535371.2:p.Trp698Arg
XM_011537070.2:c.1948T>C	XP_011535372.1:p.Trp650Arg
XM_011537071.2:c.2002T>C	XP_011535373.2:p.Trp668Arg
XM_011537072.2:c.1894T>C	XP_011535374.1:p.Trp632Arg
XM_017021582.1:c.2152T>C	XP_016877071.1:p.Trp718Arg
XM_017021583.1:c.2143T>C	XP_016877072.1:p.Trp715Arg
XM_017021584.1:c.2062T>C	XP_016877073.1:p.Trp688Arg
XM_017021585.1:c.2011T>C	XP_016877074.1:p.Trp671Arg
XM_017021586.1:c.1687T>C	XP_016877075.1:p.Trp563Arg
XM_017021587.1:c.1687T>C	XP_016877076.1:p.Trp563Arg
XM_017021588.1:c.1687T>C	XP_016877077.1:p.Trp563Arg
NM_001164749.2:c.1993T>C MANE Select	NP_001158221.1:p.Trp665Arg
NM_001165893.2:c.1903T>C	NP_001159365.1:p.Trp635Arg
NM_022123.3:c.1897T>C	NP_071406.1:p.Trp633Arg
NM_173159.3:c.1954T>C	NP_775182.1:p.Trp652Arg
NM_001394988.1:c.1948T>C	NP_001381917.1:p.Trp650Arg
NM_001394989.1:c.1894T>C	NP_001381918.1:p.Trp632Arg