Canonical Allele Identifier: CA389413589

Gene: NPAS3

Linked Data

• gnomAD v4: 14-33800336-G-A
• MyVariant Identifiers: chr14:g.34269542G>A (hg19) ; chr14:g.33800336G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800336G>A , CM000676.2:g.33800336G>A	GRCh38
NC_000014.8:g.34269542G>A , CM000676.1:g.34269542G>A	GRCh37
NC_000014.7:g.33339293G>A	NCBI36
NG_013036.1:g.866084G>A
NG_013036.2:g.866084G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.2029G>A MANE Select	ENSP00000348460.4:p.Glu677Lys
ENST00000551634.6:c.2038G>A	ENSP00000448373.2:p.Glu680Lys
ENST00000680362.1:c.1929G>A
ENST00000681323.1:c.793+2755G>A
ENST00000346562.6:c.1933G>A	ENSP00000319610.5:p.Glu645Lys
ENST00000356141.8:c.2029G>A	ENSP00000348460.4:p.Glu677Lys
ENST00000357798.9:c.1990G>A	ENSP00000350446.5:p.Glu664Lys
ENST00000548645.5:c.1939G>A	ENSP00000448916.1:p.Glu647Lys
ENST00000551492.5:c.2044G>A	ENSP00000450392.1:p.Glu682Lys
ENST00000551634.5:c.1951G>A	ENSP00000448373.1:p.Glu651Lys
NM_001164749.1:c.2029G>A	NP_001158221.1:p.Glu677Lys
NM_001165893.1:c.1939G>A	NP_001159365.1:p.Glu647Lys
NM_022123.2:c.1933G>A	NP_071406.1:p.Glu645Lys
NM_173159.2:c.1990G>A	NP_775182.1:p.Glu664Lys
XM_005267991.2:c.2050G>A	XP_005268048.1:p.Glu684Lys
XM_005267992.2:c.2044G>A	XP_005268049.1:p.Glu682Lys
XM_005267993.2:c.1990G>A	XP_005268050.1:p.Glu664Lys
XM_011537067.1:c.2080G>A	XP_011535369.1:p.Glu694Lys
XM_011537068.1:c.2071G>A	XP_011535370.1:p.Glu691Lys
XM_011537069.1:c.2041G>A	XP_011535371.1:p.Glu681Lys
XM_011537070.1:c.1984G>A	XP_011535372.1:p.Glu662Lys
XM_011537071.1:c.1951G>A	XP_011535373.1:p.Glu651Lys
XM_011537072.1:c.1930G>A	XP_011535374.1:p.Glu644Lys
XM_011537073.1:c.1723G>A	XP_011535375.1:p.Glu575Lys
XM_011537074.1:c.1723G>A	XP_011535376.1:p.Glu575Lys
XM_005267991.3:c.2137G>A	XP_005268048.2:p.Glu713Lys
XM_005267992.3:c.2131G>A	XP_005268049.2:p.Glu711Lys
XM_011537067.2:c.2080G>A	XP_011535369.1:p.Glu694Lys
XM_011537069.2:c.2128G>A	XP_011535371.2:p.Glu710Lys
XM_011537070.2:c.1984G>A	XP_011535372.1:p.Glu662Lys
XM_011537071.2:c.2038G>A	XP_011535373.2:p.Glu680Lys
XM_011537072.2:c.1930G>A	XP_011535374.1:p.Glu644Lys
XM_017021582.1:c.2188G>A	XP_016877071.1:p.Glu730Lys
XM_017021583.1:c.2179G>A	XP_016877072.1:p.Glu727Lys
XM_017021584.1:c.2098G>A	XP_016877073.1:p.Glu700Lys
XM_017021585.1:c.2047G>A	XP_016877074.1:p.Glu683Lys
XM_017021586.1:c.1723G>A	XP_016877075.1:p.Glu575Lys
XM_017021587.1:c.1723G>A	XP_016877076.1:p.Glu575Lys
XM_017021588.1:c.1723G>A	XP_016877077.1:p.Glu575Lys
NM_001164749.2:c.2029G>A MANE Select	NP_001158221.1:p.Glu677Lys
NM_001165893.2:c.1939G>A	NP_001159365.1:p.Glu647Lys
NM_022123.3:c.1933G>A	NP_071406.1:p.Glu645Lys
NM_173159.3:c.1990G>A	NP_775182.1:p.Glu664Lys
NM_001394988.1:c.1984G>A	NP_001381917.1:p.Glu662Lys
NM_001394989.1:c.1930G>A	NP_001381918.1:p.Glu644Lys