Canonical Allele Identifier: CA486092804

Gene: NPAS3

Linked Data

• gnomAD v4: 14-33800125-G-T
• MyVariant Identifiers: chr14:g.34269331G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800125G>T , CM000676.2:g.33800125G>T	GRCh38
NC_000014.8:g.34269331G>T , CM000676.1:g.34269331G>T	GRCh37
NC_000014.7:g.33339082G>T	NCBI36
NG_013036.1:g.865873G>T
NG_013036.2:g.865873G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1818G>T MANE Select	ENSP00000348460.4:p.Arg606=
ENST00000551634.6:c.1827G>T	ENSP00000448373.2:p.Arg609=
ENST00000680362.1:c.1718G>T
ENST00000681323.1:c.793+2544G>T
ENST00000346562.6:c.1722G>T	ENSP00000319610.5:p.Arg574=
ENST00000356141.8:c.1818G>T	ENSP00000348460.4:p.Arg606=
ENST00000357798.9:c.1779G>T	ENSP00000350446.5:p.Arg593=
ENST00000548645.5:c.1728G>T	ENSP00000448916.1:p.Arg576=
ENST00000551492.5:c.1833G>T	ENSP00000450392.1:p.Arg611=
ENST00000551634.5:c.1740G>T	ENSP00000448373.1:p.Arg580=
NM_001164749.1:c.1818G>T	NP_001158221.1:p.Arg606=
NM_001165893.1:c.1728G>T	NP_001159365.1:p.Arg576=
NM_022123.2:c.1722G>T	NP_071406.1:p.Arg574=
NM_173159.2:c.1779G>T	NP_775182.1:p.Arg593=
XM_005267991.2:c.1839G>T	XP_005268048.1:p.Arg613=
XM_005267992.2:c.1833G>T	XP_005268049.1:p.Arg611=
XM_005267993.2:c.1779G>T	XP_005268050.1:p.Arg593=
XM_011537067.1:c.1869G>T	XP_011535369.1:p.Arg623=
XM_011537068.1:c.1860G>T	XP_011535370.1:p.Arg620=
XM_011537069.1:c.1830G>T	XP_011535371.1:p.Arg610=
XM_011537070.1:c.1773G>T	XP_011535372.1:p.Arg591=
XM_011537071.1:c.1740G>T	XP_011535373.1:p.Arg580=
XM_011537072.1:c.1719G>T	XP_011535374.1:p.Arg573=
XM_011537073.1:c.1512G>T	XP_011535375.1:p.Arg504=
XM_011537074.1:c.1512G>T	XP_011535376.1:p.Arg504=
XM_005267991.3:c.1926G>T	XP_005268048.2:p.Arg642=
XM_005267992.3:c.1920G>T	XP_005268049.2:p.Arg640=
XM_011537067.2:c.1869G>T	XP_011535369.1:p.Arg623=
XM_011537069.2:c.1917G>T	XP_011535371.2:p.Arg639=
XM_011537070.2:c.1773G>T	XP_011535372.1:p.Arg591=
XM_011537071.2:c.1827G>T	XP_011535373.2:p.Arg609=
XM_011537072.2:c.1719G>T	XP_011535374.1:p.Arg573=
XM_017021582.1:c.1977G>T	XP_016877071.1:p.Arg659=
XM_017021583.1:c.1968G>T	XP_016877072.1:p.Arg656=
XM_017021584.1:c.1887G>T	XP_016877073.1:p.Arg629=
XM_017021585.1:c.1836G>T	XP_016877074.1:p.Arg612=
XM_017021586.1:c.1512G>T	XP_016877075.1:p.Arg504=
XM_017021587.1:c.1512G>T	XP_016877076.1:p.Arg504=
XM_017021588.1:c.1512G>T	XP_016877077.1:p.Arg504=
NM_001164749.2:c.1818G>T MANE Select	NP_001158221.1:p.Arg606=
NM_001165893.2:c.1728G>T	NP_001159365.1:p.Arg576=
NM_022123.3:c.1722G>T	NP_071406.1:p.Arg574=
NM_173159.3:c.1779G>T	NP_775182.1:p.Arg593=
NM_001394988.1:c.1773G>T	NP_001381917.1:p.Arg591=
NM_001394989.1:c.1719G>T	NP_001381918.1:p.Arg573=