Canonical Allele Identifier: CA389413654

Gene: NPAS3

Linked Data

• MyVariant Identifiers: chr14:g.34269555G>T (hg19) ; chr14:g.33800349G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800349G>T , CM000676.2:g.33800349G>T	GRCh38
NC_000014.8:g.34269555G>T , CM000676.1:g.34269555G>T	GRCh37
NC_000014.7:g.33339306G>T	NCBI36
NG_013036.1:g.866097G>T
NG_013036.2:g.866097G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.2042G>T MANE Select	ENSP00000348460.4:p.Ser681Ile
ENST00000551634.6:c.2051G>T	ENSP00000448373.2:p.Ser684Ile
ENST00000680362.1:c.1942G>T
ENST00000681323.1:c.793+2768G>T
ENST00000346562.6:c.1946G>T	ENSP00000319610.5:p.Ser649Ile
ENST00000356141.8:c.2042G>T	ENSP00000348460.4:p.Ser681Ile
ENST00000357798.9:c.2003G>T	ENSP00000350446.5:p.Ser668Ile
ENST00000548645.5:c.1952G>T	ENSP00000448916.1:p.Ser651Ile
ENST00000551492.5:c.2057G>T	ENSP00000450392.1:p.Ser686Ile
ENST00000551634.5:c.1964G>T	ENSP00000448373.1:p.Ser655Ile
NM_001164749.1:c.2042G>T	NP_001158221.1:p.Ser681Ile
NM_001165893.1:c.1952G>T	NP_001159365.1:p.Ser651Ile
NM_022123.2:c.1946G>T	NP_071406.1:p.Ser649Ile
NM_173159.2:c.2003G>T	NP_775182.1:p.Ser668Ile
XM_005267991.2:c.2063G>T	XP_005268048.1:p.Ser688Ile
XM_005267992.2:c.2057G>T	XP_005268049.1:p.Ser686Ile
XM_005267993.2:c.2003G>T	XP_005268050.1:p.Ser668Ile
XM_011537067.1:c.2093G>T	XP_011535369.1:p.Ser698Ile
XM_011537068.1:c.2084G>T	XP_011535370.1:p.Ser695Ile
XM_011537069.1:c.2054G>T	XP_011535371.1:p.Ser685Ile
XM_011537070.1:c.1997G>T	XP_011535372.1:p.Ser666Ile
XM_011537071.1:c.1964G>T	XP_011535373.1:p.Ser655Ile
XM_011537072.1:c.1943G>T	XP_011535374.1:p.Ser648Ile
XM_011537073.1:c.1736G>T	XP_011535375.1:p.Ser579Ile
XM_011537074.1:c.1736G>T	XP_011535376.1:p.Ser579Ile
XM_005267991.3:c.2150G>T	XP_005268048.2:p.Ser717Ile
XM_005267992.3:c.2144G>T	XP_005268049.2:p.Ser715Ile
XM_011537067.2:c.2093G>T	XP_011535369.1:p.Ser698Ile
XM_011537069.2:c.2141G>T	XP_011535371.2:p.Ser714Ile
XM_011537070.2:c.1997G>T	XP_011535372.1:p.Ser666Ile
XM_011537071.2:c.2051G>T	XP_011535373.2:p.Ser684Ile
XM_011537072.2:c.1943G>T	XP_011535374.1:p.Ser648Ile
XM_017021582.1:c.2201G>T	XP_016877071.1:p.Ser734Ile
XM_017021583.1:c.2192G>T	XP_016877072.1:p.Ser731Ile
XM_017021584.1:c.2111G>T	XP_016877073.1:p.Ser704Ile
XM_017021585.1:c.2060G>T	XP_016877074.1:p.Ser687Ile
XM_017021586.1:c.1736G>T	XP_016877075.1:p.Ser579Ile
XM_017021587.1:c.1736G>T	XP_016877076.1:p.Ser579Ile
XM_017021588.1:c.1736G>T	XP_016877077.1:p.Ser579Ile
NM_001164749.2:c.2042G>T MANE Select	NP_001158221.1:p.Ser681Ile
NM_001165893.2:c.1952G>T	NP_001159365.1:p.Ser651Ile
NM_022123.3:c.1946G>T	NP_071406.1:p.Ser649Ile
NM_173159.3:c.2003G>T	NP_775182.1:p.Ser668Ile
NM_001394988.1:c.1997G>T	NP_001381917.1:p.Ser666Ile
NM_001394989.1:c.1943G>T	NP_001381918.1:p.Ser648Ile