Canonical Allele Identifier: CA389412478

Gene: NPAS3

Linked Data

• dbSNP Id: rs1188143742
• gnomAD v2: 14-34269311-C-A
• gnomAD v4: 14-33800105-C-A
• MyVariant Identifiers: chr14:g.34269311C>A (hg19) ; chr14:g.33800105C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800105C>A , CM000676.2:g.33800105C>A	GRCh38
NC_000014.8:g.34269311C>A , CM000676.1:g.34269311C>A	GRCh37
NC_000014.7:g.33339062C>A	NCBI36
NG_013036.1:g.865853C>A
NG_013036.2:g.865853C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1798C>A MANE Select	ENSP00000348460.4:p.Arg600Ser
ENST00000551634.6:c.1807C>A	ENSP00000448373.2:p.Arg603Ser
ENST00000680362.1:c.1698C>A
ENST00000681323.1:c.793+2524C>A
ENST00000346562.6:c.1702C>A	ENSP00000319610.5:p.Arg568Ser
ENST00000356141.8:c.1798C>A	ENSP00000348460.4:p.Arg600Ser
ENST00000357798.9:c.1759C>A	ENSP00000350446.5:p.Arg587Ser
ENST00000548645.5:c.1708C>A	ENSP00000448916.1:p.Arg570Ser
ENST00000551492.5:c.1813C>A	ENSP00000450392.1:p.Arg605Ser
ENST00000551634.5:c.1720C>A	ENSP00000448373.1:p.Arg574Ser
NM_001164749.1:c.1798C>A	NP_001158221.1:p.Arg600Ser
NM_001165893.1:c.1708C>A	NP_001159365.1:p.Arg570Ser
NM_022123.2:c.1702C>A	NP_071406.1:p.Arg568Ser
NM_173159.2:c.1759C>A	NP_775182.1:p.Arg587Ser
XM_005267991.2:c.1819C>A	XP_005268048.1:p.Arg607Ser
XM_005267992.2:c.1813C>A	XP_005268049.1:p.Arg605Ser
XM_005267993.2:c.1759C>A	XP_005268050.1:p.Arg587Ser
XM_011537067.1:c.1849C>A	XP_011535369.1:p.Arg617Ser
XM_011537068.1:c.1840C>A	XP_011535370.1:p.Arg614Ser
XM_011537069.1:c.1810C>A	XP_011535371.1:p.Arg604Ser
XM_011537070.1:c.1753C>A	XP_011535372.1:p.Arg585Ser
XM_011537071.1:c.1720C>A	XP_011535373.1:p.Arg574Ser
XM_011537072.1:c.1699C>A	XP_011535374.1:p.Arg567Ser
XM_011537073.1:c.1492C>A	XP_011535375.1:p.Arg498Ser
XM_011537074.1:c.1492C>A	XP_011535376.1:p.Arg498Ser
XM_005267991.3:c.1906C>A	XP_005268048.2:p.Arg636Ser
XM_005267992.3:c.1900C>A	XP_005268049.2:p.Arg634Ser
XM_011537067.2:c.1849C>A	XP_011535369.1:p.Arg617Ser
XM_011537069.2:c.1897C>A	XP_011535371.2:p.Arg633Ser
XM_011537070.2:c.1753C>A	XP_011535372.1:p.Arg585Ser
XM_011537071.2:c.1807C>A	XP_011535373.2:p.Arg603Ser
XM_011537072.2:c.1699C>A	XP_011535374.1:p.Arg567Ser
XM_017021582.1:c.1957C>A	XP_016877071.1:p.Arg653Ser
XM_017021583.1:c.1948C>A	XP_016877072.1:p.Arg650Ser
XM_017021584.1:c.1867C>A	XP_016877073.1:p.Arg623Ser
XM_017021585.1:c.1816C>A	XP_016877074.1:p.Arg606Ser
XM_017021586.1:c.1492C>A	XP_016877075.1:p.Arg498Ser
XM_017021587.1:c.1492C>A	XP_016877076.1:p.Arg498Ser
XM_017021588.1:c.1492C>A	XP_016877077.1:p.Arg498Ser
NM_001164749.2:c.1798C>A MANE Select	NP_001158221.1:p.Arg600Ser
NM_001165893.2:c.1708C>A	NP_001159365.1:p.Arg570Ser
NM_022123.3:c.1702C>A	NP_071406.1:p.Arg568Ser
NM_173159.3:c.1759C>A	NP_775182.1:p.Arg587Ser
NM_001394988.1:c.1753C>A	NP_001381917.1:p.Arg585Ser
NM_001394989.1:c.1699C>A	NP_001381918.1:p.Arg567Ser