Canonical Allele Identifier: CA486093169

Gene: NPAS3

Linked Data

• gnomAD v4: 14-33800443-C-A
• MyVariant Identifiers: chr14:g.34269649C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800443C>A , CM000676.2:g.33800443C>A	GRCh38
NC_000014.8:g.34269649C>A , CM000676.1:g.34269649C>A	GRCh37
NC_000014.7:g.33339400C>A	NCBI36
NG_013036.1:g.866191C>A
NG_013036.2:g.866191C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.2136C>A MANE Select	ENSP00000348460.4:p.Pro712=
ENST00000551634.6:c.2145C>A	ENSP00000448373.2:p.Pro715=
ENST00000680362.1:c.2036C>A
ENST00000681323.1:c.793+2862C>A
ENST00000346562.6:c.2040C>A	ENSP00000319610.5:p.Pro680=
ENST00000356141.8:c.2136C>A	ENSP00000348460.4:p.Pro712=
ENST00000357798.9:c.2097C>A	ENSP00000350446.5:p.Pro699=
ENST00000548645.5:c.2046C>A	ENSP00000448916.1:p.Pro682=
ENST00000551492.5:c.2151C>A	ENSP00000450392.1:p.Pro717=
ENST00000551634.5:c.2058C>A	ENSP00000448373.1:p.Pro686=
NM_001164749.1:c.2136C>A	NP_001158221.1:p.Pro712=
NM_001165893.1:c.2046C>A	NP_001159365.1:p.Pro682=
NM_022123.2:c.2040C>A	NP_071406.1:p.Pro680=
NM_173159.2:c.2097C>A	NP_775182.1:p.Pro699=
XM_005267991.2:c.2157C>A	XP_005268048.1:p.Pro719=
XM_005267992.2:c.2151C>A	XP_005268049.1:p.Pro717=
XM_005267993.2:c.2097C>A	XP_005268050.1:p.Pro699=
XM_011537067.1:c.2187C>A	XP_011535369.1:p.Pro729=
XM_011537068.1:c.2178C>A	XP_011535370.1:p.Pro726=
XM_011537069.1:c.2148C>A	XP_011535371.1:p.Pro716=
XM_011537070.1:c.2091C>A	XP_011535372.1:p.Pro697=
XM_011537071.1:c.2058C>A	XP_011535373.1:p.Pro686=
XM_011537072.1:c.2037C>A	XP_011535374.1:p.Pro679=
XM_011537073.1:c.1830C>A	XP_011535375.1:p.Pro610=
XM_011537074.1:c.1830C>A	XP_011535376.1:p.Pro610=
XM_005267991.3:c.2244C>A	XP_005268048.2:p.Pro748=
XM_005267992.3:c.2238C>A	XP_005268049.2:p.Pro746=
XM_011537067.2:c.2187C>A	XP_011535369.1:p.Pro729=
XM_011537069.2:c.2235C>A	XP_011535371.2:p.Pro745=
XM_011537070.2:c.2091C>A	XP_011535372.1:p.Pro697=
XM_011537071.2:c.2145C>A	XP_011535373.2:p.Pro715=
XM_011537072.2:c.2037C>A	XP_011535374.1:p.Pro679=
XM_017021582.1:c.2295C>A	XP_016877071.1:p.Pro765=
XM_017021583.1:c.2286C>A	XP_016877072.1:p.Pro762=
XM_017021584.1:c.2205C>A	XP_016877073.1:p.Pro735=
XM_017021585.1:c.2154C>A	XP_016877074.1:p.Pro718=
XM_017021586.1:c.1830C>A	XP_016877075.1:p.Pro610=
XM_017021587.1:c.1830C>A	XP_016877076.1:p.Pro610=
XM_017021588.1:c.1830C>A	XP_016877077.1:p.Pro610=
NM_001164749.2:c.2136C>A MANE Select	NP_001158221.1:p.Pro712=
NM_001165893.2:c.2046C>A	NP_001159365.1:p.Pro682=
NM_022123.3:c.2040C>A	NP_071406.1:p.Pro680=
NM_173159.3:c.2097C>A	NP_775182.1:p.Pro699=
NM_001394988.1:c.2091C>A	NP_001381917.1:p.Pro697=
NM_001394989.1:c.2037C>A	NP_001381918.1:p.Pro679=