Canonical Allele Identifier: CA389414033

Gene: NPAS3

Linked Data

• gnomAD v4: 14-33800438-A-T
• MyVariant Identifiers: chr14:g.34269644A>T (hg19) ; chr14:g.33800438A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800438A>T , CM000676.2:g.33800438A>T	GRCh38
NC_000014.8:g.34269644A>T , CM000676.1:g.34269644A>T	GRCh37
NC_000014.7:g.33339395A>T	NCBI36
NG_013036.1:g.866186A>T
NG_013036.2:g.866186A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.2131A>T MANE Select	ENSP00000348460.4:p.Ile711Phe
ENST00000551634.6:c.2140A>T	ENSP00000448373.2:p.Ile714Phe
ENST00000680362.1:c.2031A>T
ENST00000681323.1:c.793+2857A>T
ENST00000346562.6:c.2035A>T	ENSP00000319610.5:p.Ile679Phe
ENST00000356141.8:c.2131A>T	ENSP00000348460.4:p.Ile711Phe
ENST00000357798.9:c.2092A>T	ENSP00000350446.5:p.Ile698Phe
ENST00000548645.5:c.2041A>T	ENSP00000448916.1:p.Ile681Phe
ENST00000551492.5:c.2146A>T	ENSP00000450392.1:p.Ile716Phe
ENST00000551634.5:c.2053A>T	ENSP00000448373.1:p.Ile685Phe
NM_001164749.1:c.2131A>T	NP_001158221.1:p.Ile711Phe
NM_001165893.1:c.2041A>T	NP_001159365.1:p.Ile681Phe
NM_022123.2:c.2035A>T	NP_071406.1:p.Ile679Phe
NM_173159.2:c.2092A>T	NP_775182.1:p.Ile698Phe
XM_005267991.2:c.2152A>T	XP_005268048.1:p.Ile718Phe
XM_005267992.2:c.2146A>T	XP_005268049.1:p.Ile716Phe
XM_005267993.2:c.2092A>T	XP_005268050.1:p.Ile698Phe
XM_011537067.1:c.2182A>T	XP_011535369.1:p.Ile728Phe
XM_011537068.1:c.2173A>T	XP_011535370.1:p.Ile725Phe
XM_011537069.1:c.2143A>T	XP_011535371.1:p.Ile715Phe
XM_011537070.1:c.2086A>T	XP_011535372.1:p.Ile696Phe
XM_011537071.1:c.2053A>T	XP_011535373.1:p.Ile685Phe
XM_011537072.1:c.2032A>T	XP_011535374.1:p.Ile678Phe
XM_011537073.1:c.1825A>T	XP_011535375.1:p.Ile609Phe
XM_011537074.1:c.1825A>T	XP_011535376.1:p.Ile609Phe
XM_005267991.3:c.2239A>T	XP_005268048.2:p.Ile747Phe
XM_005267992.3:c.2233A>T	XP_005268049.2:p.Ile745Phe
XM_011537067.2:c.2182A>T	XP_011535369.1:p.Ile728Phe
XM_011537069.2:c.2230A>T	XP_011535371.2:p.Ile744Phe
XM_011537070.2:c.2086A>T	XP_011535372.1:p.Ile696Phe
XM_011537071.2:c.2140A>T	XP_011535373.2:p.Ile714Phe
XM_011537072.2:c.2032A>T	XP_011535374.1:p.Ile678Phe
XM_017021582.1:c.2290A>T	XP_016877071.1:p.Ile764Phe
XM_017021583.1:c.2281A>T	XP_016877072.1:p.Ile761Phe
XM_017021584.1:c.2200A>T	XP_016877073.1:p.Ile734Phe
XM_017021585.1:c.2149A>T	XP_016877074.1:p.Ile717Phe
XM_017021586.1:c.1825A>T	XP_016877075.1:p.Ile609Phe
XM_017021587.1:c.1825A>T	XP_016877076.1:p.Ile609Phe
XM_017021588.1:c.1825A>T	XP_016877077.1:p.Ile609Phe
NM_001164749.2:c.2131A>T MANE Select	NP_001158221.1:p.Ile711Phe
NM_001165893.2:c.2041A>T	NP_001159365.1:p.Ile681Phe
NM_022123.3:c.2035A>T	NP_071406.1:p.Ile679Phe
NM_173159.3:c.2092A>T	NP_775182.1:p.Ile698Phe
NM_001394988.1:c.2086A>T	NP_001381917.1:p.Ile696Phe
NM_001394989.1:c.2032A>T	NP_001381918.1:p.Ile678Phe