Canonical Allele Identifier: CA389412332

Gene: NPAS3

Linked Data

• gnomAD v4: 14-33800082-A-T
• MyVariant Identifiers: chr14:g.34269288A>T (hg19) ; chr14:g.33800082A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800082A>T , CM000676.2:g.33800082A>T	GRCh38
NC_000014.8:g.34269288A>T , CM000676.1:g.34269288A>T	GRCh37
NC_000014.7:g.33339039A>T	NCBI36
NG_013036.1:g.865830A>T
NG_013036.2:g.865830A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1775A>T MANE Select	ENSP00000348460.4:p.Gln592Leu
ENST00000551634.6:c.1784A>T	ENSP00000448373.2:p.Gln595Leu
ENST00000680362.1:c.1675A>T
ENST00000681323.1:c.793+2501A>T
ENST00000346562.6:c.1679A>T	ENSP00000319610.5:p.Gln560Leu
ENST00000356141.8:c.1775A>T	ENSP00000348460.4:p.Gln592Leu
ENST00000357798.9:c.1736A>T	ENSP00000350446.5:p.Gln579Leu
ENST00000548645.5:c.1685A>T	ENSP00000448916.1:p.Gln562Leu
ENST00000551492.5:c.1790A>T	ENSP00000450392.1:p.Gln597Leu
ENST00000551634.5:c.1697A>T	ENSP00000448373.1:p.Gln566Leu
NM_001164749.1:c.1775A>T	NP_001158221.1:p.Gln592Leu
NM_001165893.1:c.1685A>T	NP_001159365.1:p.Gln562Leu
NM_022123.2:c.1679A>T	NP_071406.1:p.Gln560Leu
NM_173159.2:c.1736A>T	NP_775182.1:p.Gln579Leu
XM_005267991.2:c.1796A>T	XP_005268048.1:p.Gln599Leu
XM_005267992.2:c.1790A>T	XP_005268049.1:p.Gln597Leu
XM_005267993.2:c.1736A>T	XP_005268050.1:p.Gln579Leu
XM_011537067.1:c.1826A>T	XP_011535369.1:p.Gln609Leu
XM_011537068.1:c.1817A>T	XP_011535370.1:p.Gln606Leu
XM_011537069.1:c.1787A>T	XP_011535371.1:p.Gln596Leu
XM_011537070.1:c.1730A>T	XP_011535372.1:p.Gln577Leu
XM_011537071.1:c.1697A>T	XP_011535373.1:p.Gln566Leu
XM_011537072.1:c.1676A>T	XP_011535374.1:p.Gln559Leu
XM_011537073.1:c.1469A>T	XP_011535375.1:p.Gln490Leu
XM_011537074.1:c.1469A>T	XP_011535376.1:p.Gln490Leu
XM_005267991.3:c.1883A>T	XP_005268048.2:p.Gln628Leu
XM_005267992.3:c.1877A>T	XP_005268049.2:p.Gln626Leu
XM_011537067.2:c.1826A>T	XP_011535369.1:p.Gln609Leu
XM_011537069.2:c.1874A>T	XP_011535371.2:p.Gln625Leu
XM_011537070.2:c.1730A>T	XP_011535372.1:p.Gln577Leu
XM_011537071.2:c.1784A>T	XP_011535373.2:p.Gln595Leu
XM_011537072.2:c.1676A>T	XP_011535374.1:p.Gln559Leu
XM_017021582.1:c.1934A>T	XP_016877071.1:p.Gln645Leu
XM_017021583.1:c.1925A>T	XP_016877072.1:p.Gln642Leu
XM_017021584.1:c.1844A>T	XP_016877073.1:p.Gln615Leu
XM_017021585.1:c.1793A>T	XP_016877074.1:p.Gln598Leu
XM_017021586.1:c.1469A>T	XP_016877075.1:p.Gln490Leu
XM_017021587.1:c.1469A>T	XP_016877076.1:p.Gln490Leu
XM_017021588.1:c.1469A>T	XP_016877077.1:p.Gln490Leu
NM_001164749.2:c.1775A>T MANE Select	NP_001158221.1:p.Gln592Leu
NM_001165893.2:c.1685A>T	NP_001159365.1:p.Gln562Leu
NM_022123.3:c.1679A>T	NP_071406.1:p.Gln560Leu
NM_173159.3:c.1736A>T	NP_775182.1:p.Gln579Leu
NM_001394988.1:c.1730A>T	NP_001381917.1:p.Gln577Leu
NM_001394989.1:c.1676A>T	NP_001381918.1:p.Gln559Leu