Canonical Allele Identifier: CA389414328

Gene: NPAS3

Linked Data

• gnomAD v4: 14-33800578-C-A
• MyVariant Identifiers: chr14:g.34269784C>A (hg19) ; chr14:g.33800578C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800578C>A , CM000676.2:g.33800578C>A	GRCh38
NC_000014.8:g.34269784C>A , CM000676.1:g.34269784C>A	GRCh37
NC_000014.7:g.33339535C>A	NCBI36
NG_013036.1:g.866326C>A
NG_013036.2:g.866326C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.2271C>A MANE Select	ENSP00000348460.4:p.Asp757Glu
ENST00000551634.6:c.2280C>A	ENSP00000448373.2:p.Asp760Glu
ENST00000680362.1:c.2171C>A
ENST00000681323.1:c.793+2997C>A
ENST00000346562.6:c.2175C>A	ENSP00000319610.5:p.Asp725Glu
ENST00000356141.8:c.2271C>A	ENSP00000348460.4:p.Asp757Glu
ENST00000357798.9:c.2232C>A	ENSP00000350446.5:p.Asp744Glu
ENST00000548645.5:c.2181C>A	ENSP00000448916.1:p.Asp727Glu
ENST00000551492.5:c.2286C>A	ENSP00000450392.1:p.Asp762Glu
ENST00000551634.5:c.2193C>A	ENSP00000448373.1:p.Asp731Glu
NM_001164749.1:c.2271C>A	NP_001158221.1:p.Asp757Glu
NM_001165893.1:c.2181C>A	NP_001159365.1:p.Asp727Glu
NM_022123.2:c.2175C>A	NP_071406.1:p.Asp725Glu
NM_173159.2:c.2232C>A	NP_775182.1:p.Asp744Glu
XM_005267991.2:c.2292C>A	XP_005268048.1:p.Asp764Glu
XM_005267992.2:c.2286C>A	XP_005268049.1:p.Asp762Glu
XM_005267993.2:c.2232C>A	XP_005268050.1:p.Asp744Glu
XM_011537067.1:c.2322C>A	XP_011535369.1:p.Asp774Glu
XM_011537068.1:c.2313C>A	XP_011535370.1:p.Asp771Glu
XM_011537069.1:c.2283C>A	XP_011535371.1:p.Asp761Glu
XM_011537070.1:c.2226C>A	XP_011535372.1:p.Asp742Glu
XM_011537071.1:c.2193C>A	XP_011535373.1:p.Asp731Glu
XM_011537072.1:c.2172C>A	XP_011535374.1:p.Asp724Glu
XM_011537073.1:c.1965C>A	XP_011535375.1:p.Asp655Glu
XM_011537074.1:c.1965C>A	XP_011535376.1:p.Asp655Glu
XM_005267991.3:c.2379C>A	XP_005268048.2:p.Asp793Glu
XM_005267992.3:c.2373C>A	XP_005268049.2:p.Asp791Glu
XM_011537067.2:c.2322C>A	XP_011535369.1:p.Asp774Glu
XM_011537069.2:c.2370C>A	XP_011535371.2:p.Asp790Glu
XM_011537070.2:c.2226C>A	XP_011535372.1:p.Asp742Glu
XM_011537071.2:c.2280C>A	XP_011535373.2:p.Asp760Glu
XM_011537072.2:c.2172C>A	XP_011535374.1:p.Asp724Glu
XM_017021582.1:c.2430C>A	XP_016877071.1:p.Asp810Glu
XM_017021583.1:c.2421C>A	XP_016877072.1:p.Asp807Glu
XM_017021584.1:c.2340C>A	XP_016877073.1:p.Asp780Glu
XM_017021585.1:c.2289C>A	XP_016877074.1:p.Asp763Glu
XM_017021586.1:c.1965C>A	XP_016877075.1:p.Asp655Glu
XM_017021587.1:c.1965C>A	XP_016877076.1:p.Asp655Glu
XM_017021588.1:c.1965C>A	XP_016877077.1:p.Asp655Glu
NM_001164749.2:c.2271C>A MANE Select	NP_001158221.1:p.Asp757Glu
NM_001165893.2:c.2181C>A	NP_001159365.1:p.Asp727Glu
NM_022123.3:c.2175C>A	NP_071406.1:p.Asp725Glu
NM_173159.3:c.2232C>A	NP_775182.1:p.Asp744Glu
NM_001394988.1:c.2226C>A	NP_001381917.1:p.Asp742Glu
NM_001394989.1:c.2172C>A	NP_001381918.1:p.Asp724Glu