Canonical Allele Identifier: CA389412374

Gene: NPAS3

Linked Data

• gnomAD v4: 14-33800092-C-A
• MyVariant Identifiers: chr14:g.34269298C>A (hg19) ; chr14:g.33800092C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800092C>A , CM000676.2:g.33800092C>A	GRCh38
NC_000014.8:g.34269298C>A , CM000676.1:g.34269298C>A	GRCh37
NC_000014.7:g.33339049C>A	NCBI36
NG_013036.1:g.865840C>A
NG_013036.2:g.865840C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1785C>A MANE Select	ENSP00000348460.4:p.Ser595Arg
ENST00000551634.6:c.1794C>A	ENSP00000448373.2:p.Ser598Arg
ENST00000680362.1:c.1685C>A
ENST00000681323.1:c.793+2511C>A
ENST00000346562.6:c.1689C>A	ENSP00000319610.5:p.Ser563Arg
ENST00000356141.8:c.1785C>A	ENSP00000348460.4:p.Ser595Arg
ENST00000357798.9:c.1746C>A	ENSP00000350446.5:p.Ser582Arg
ENST00000548645.5:c.1695C>A	ENSP00000448916.1:p.Ser565Arg
ENST00000551492.5:c.1800C>A	ENSP00000450392.1:p.Ser600Arg
ENST00000551634.5:c.1707C>A	ENSP00000448373.1:p.Ser569Arg
NM_001164749.1:c.1785C>A	NP_001158221.1:p.Ser595Arg
NM_001165893.1:c.1695C>A	NP_001159365.1:p.Ser565Arg
NM_022123.2:c.1689C>A	NP_071406.1:p.Ser563Arg
NM_173159.2:c.1746C>A	NP_775182.1:p.Ser582Arg
XM_005267991.2:c.1806C>A	XP_005268048.1:p.Ser602Arg
XM_005267992.2:c.1800C>A	XP_005268049.1:p.Ser600Arg
XM_005267993.2:c.1746C>A	XP_005268050.1:p.Ser582Arg
XM_011537067.1:c.1836C>A	XP_011535369.1:p.Ser612Arg
XM_011537068.1:c.1827C>A	XP_011535370.1:p.Ser609Arg
XM_011537069.1:c.1797C>A	XP_011535371.1:p.Ser599Arg
XM_011537070.1:c.1740C>A	XP_011535372.1:p.Ser580Arg
XM_011537071.1:c.1707C>A	XP_011535373.1:p.Ser569Arg
XM_011537072.1:c.1686C>A	XP_011535374.1:p.Ser562Arg
XM_011537073.1:c.1479C>A	XP_011535375.1:p.Ser493Arg
XM_011537074.1:c.1479C>A	XP_011535376.1:p.Ser493Arg
XM_005267991.3:c.1893C>A	XP_005268048.2:p.Ser631Arg
XM_005267992.3:c.1887C>A	XP_005268049.2:p.Ser629Arg
XM_011537067.2:c.1836C>A	XP_011535369.1:p.Ser612Arg
XM_011537069.2:c.1884C>A	XP_011535371.2:p.Ser628Arg
XM_011537070.2:c.1740C>A	XP_011535372.1:p.Ser580Arg
XM_011537071.2:c.1794C>A	XP_011535373.2:p.Ser598Arg
XM_011537072.2:c.1686C>A	XP_011535374.1:p.Ser562Arg
XM_017021582.1:c.1944C>A	XP_016877071.1:p.Ser648Arg
XM_017021583.1:c.1935C>A	XP_016877072.1:p.Ser645Arg
XM_017021584.1:c.1854C>A	XP_016877073.1:p.Ser618Arg
XM_017021585.1:c.1803C>A	XP_016877074.1:p.Ser601Arg
XM_017021586.1:c.1479C>A	XP_016877075.1:p.Ser493Arg
XM_017021587.1:c.1479C>A	XP_016877076.1:p.Ser493Arg
XM_017021588.1:c.1479C>A	XP_016877077.1:p.Ser493Arg
NM_001164749.2:c.1785C>A MANE Select	NP_001158221.1:p.Ser595Arg
NM_001165893.2:c.1695C>A	NP_001159365.1:p.Ser565Arg
NM_022123.3:c.1689C>A	NP_071406.1:p.Ser563Arg
NM_173159.3:c.1746C>A	NP_775182.1:p.Ser582Arg
NM_001394988.1:c.1740C>A	NP_001381917.1:p.Ser580Arg
NM_001394989.1:c.1686C>A	NP_001381918.1:p.Ser562Arg