Canonical Allele Identifier: CA389412467

Gene: NPAS3

Linked Data

• gnomAD v4: 14-33800103-A-T
• MyVariant Identifiers: chr14:g.34269309A>T (hg19) ; chr14:g.33800103A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800103A>T , CM000676.2:g.33800103A>T	GRCh38
NC_000014.8:g.34269309A>T , CM000676.1:g.34269309A>T	GRCh37
NC_000014.7:g.33339060A>T	NCBI36
NG_013036.1:g.865851A>T
NG_013036.2:g.865851A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1796A>T MANE Select	ENSP00000348460.4:p.Lys599Met
ENST00000551634.6:c.1805A>T	ENSP00000448373.2:p.Lys602Met
ENST00000680362.1:c.1696A>T
ENST00000681323.1:c.793+2522A>T
ENST00000346562.6:c.1700A>T	ENSP00000319610.5:p.Lys567Met
ENST00000356141.8:c.1796A>T	ENSP00000348460.4:p.Lys599Met
ENST00000357798.9:c.1757A>T	ENSP00000350446.5:p.Lys586Met
ENST00000548645.5:c.1706A>T	ENSP00000448916.1:p.Lys569Met
ENST00000551492.5:c.1811A>T	ENSP00000450392.1:p.Lys604Met
ENST00000551634.5:c.1718A>T	ENSP00000448373.1:p.Lys573Met
NM_001164749.1:c.1796A>T	NP_001158221.1:p.Lys599Met
NM_001165893.1:c.1706A>T	NP_001159365.1:p.Lys569Met
NM_022123.2:c.1700A>T	NP_071406.1:p.Lys567Met
NM_173159.2:c.1757A>T	NP_775182.1:p.Lys586Met
XM_005267991.2:c.1817A>T	XP_005268048.1:p.Lys606Met
XM_005267992.2:c.1811A>T	XP_005268049.1:p.Lys604Met
XM_005267993.2:c.1757A>T	XP_005268050.1:p.Lys586Met
XM_011537067.1:c.1847A>T	XP_011535369.1:p.Lys616Met
XM_011537068.1:c.1838A>T	XP_011535370.1:p.Lys613Met
XM_011537069.1:c.1808A>T	XP_011535371.1:p.Lys603Met
XM_011537070.1:c.1751A>T	XP_011535372.1:p.Lys584Met
XM_011537071.1:c.1718A>T	XP_011535373.1:p.Lys573Met
XM_011537072.1:c.1697A>T	XP_011535374.1:p.Lys566Met
XM_011537073.1:c.1490A>T	XP_011535375.1:p.Lys497Met
XM_011537074.1:c.1490A>T	XP_011535376.1:p.Lys497Met
XM_005267991.3:c.1904A>T	XP_005268048.2:p.Lys635Met
XM_005267992.3:c.1898A>T	XP_005268049.2:p.Lys633Met
XM_011537067.2:c.1847A>T	XP_011535369.1:p.Lys616Met
XM_011537069.2:c.1895A>T	XP_011535371.2:p.Lys632Met
XM_011537070.2:c.1751A>T	XP_011535372.1:p.Lys584Met
XM_011537071.2:c.1805A>T	XP_011535373.2:p.Lys602Met
XM_011537072.2:c.1697A>T	XP_011535374.1:p.Lys566Met
XM_017021582.1:c.1955A>T	XP_016877071.1:p.Lys652Met
XM_017021583.1:c.1946A>T	XP_016877072.1:p.Lys649Met
XM_017021584.1:c.1865A>T	XP_016877073.1:p.Lys622Met
XM_017021585.1:c.1814A>T	XP_016877074.1:p.Lys605Met
XM_017021586.1:c.1490A>T	XP_016877075.1:p.Lys497Met
XM_017021587.1:c.1490A>T	XP_016877076.1:p.Lys497Met
XM_017021588.1:c.1490A>T	XP_016877077.1:p.Lys497Met
NM_001164749.2:c.1796A>T MANE Select	NP_001158221.1:p.Lys599Met
NM_001165893.2:c.1706A>T	NP_001159365.1:p.Lys569Met
NM_022123.3:c.1700A>T	NP_071406.1:p.Lys567Met
NM_173159.3:c.1757A>T	NP_775182.1:p.Lys586Met
NM_001394988.1:c.1751A>T	NP_001381917.1:p.Lys584Met
NM_001394989.1:c.1697A>T	NP_001381918.1:p.Lys566Met