Canonical Allele Identifier: CA389412206

Gene: NPAS3

Linked Data

• dbSNP Id: rs1251249861
• gnomAD v3: 14-33800062-C-A
• gnomAD v4: 14-33800062-C-A
• MyVariant Identifiers: chr14:g.34269268C>A (hg19) ; chr14:g.33800062C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800062C>A , CM000676.2:g.33800062C>A	GRCh38
NC_000014.8:g.34269268C>A , CM000676.1:g.34269268C>A	GRCh37
NC_000014.7:g.33339019C>A	NCBI36
NG_013036.1:g.865810C>A
NG_013036.2:g.865810C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1755C>A MANE Select	ENSP00000348460.4:p.Ser585Arg
ENST00000551634.6:c.1764C>A	ENSP00000448373.2:p.Ser588Arg
ENST00000680362.1:c.1655C>A
ENST00000681323.1:c.793+2481C>A
ENST00000346562.6:c.1659C>A	ENSP00000319610.5:p.Ser553Arg
ENST00000356141.8:c.1755C>A	ENSP00000348460.4:p.Ser585Arg
ENST00000357798.9:c.1716C>A	ENSP00000350446.5:p.Ser572Arg
ENST00000548645.5:c.1665C>A	ENSP00000448916.1:p.Ser555Arg
ENST00000551492.5:c.1770C>A	ENSP00000450392.1:p.Ser590Arg
ENST00000551634.5:c.1677C>A	ENSP00000448373.1:p.Ser559Arg
NM_001164749.1:c.1755C>A	NP_001158221.1:p.Ser585Arg
NM_001165893.1:c.1665C>A	NP_001159365.1:p.Ser555Arg
NM_022123.2:c.1659C>A	NP_071406.1:p.Ser553Arg
NM_173159.2:c.1716C>A	NP_775182.1:p.Ser572Arg
XM_005267991.2:c.1776C>A	XP_005268048.1:p.Ser592Arg
XM_005267992.2:c.1770C>A	XP_005268049.1:p.Ser590Arg
XM_005267993.2:c.1716C>A	XP_005268050.1:p.Ser572Arg
XM_011537067.1:c.1806C>A	XP_011535369.1:p.Ser602Arg
XM_011537068.1:c.1797C>A	XP_011535370.1:p.Ser599Arg
XM_011537069.1:c.1767C>A	XP_011535371.1:p.Ser589Arg
XM_011537070.1:c.1710C>A	XP_011535372.1:p.Ser570Arg
XM_011537071.1:c.1677C>A	XP_011535373.1:p.Ser559Arg
XM_011537072.1:c.1656C>A	XP_011535374.1:p.Ser552Arg
XM_011537073.1:c.1449C>A	XP_011535375.1:p.Ser483Arg
XM_011537074.1:c.1449C>A	XP_011535376.1:p.Ser483Arg
XM_005267991.3:c.1863C>A	XP_005268048.2:p.Ser621Arg
XM_005267992.3:c.1857C>A	XP_005268049.2:p.Ser619Arg
XM_011537067.2:c.1806C>A	XP_011535369.1:p.Ser602Arg
XM_011537069.2:c.1854C>A	XP_011535371.2:p.Ser618Arg
XM_011537070.2:c.1710C>A	XP_011535372.1:p.Ser570Arg
XM_011537071.2:c.1764C>A	XP_011535373.2:p.Ser588Arg
XM_011537072.2:c.1656C>A	XP_011535374.1:p.Ser552Arg
XM_017021582.1:c.1914C>A	XP_016877071.1:p.Ser638Arg
XM_017021583.1:c.1905C>A	XP_016877072.1:p.Ser635Arg
XM_017021584.1:c.1824C>A	XP_016877073.1:p.Ser608Arg
XM_017021585.1:c.1773C>A	XP_016877074.1:p.Ser591Arg
XM_017021586.1:c.1449C>A	XP_016877075.1:p.Ser483Arg
XM_017021587.1:c.1449C>A	XP_016877076.1:p.Ser483Arg
XM_017021588.1:c.1449C>A	XP_016877077.1:p.Ser483Arg
NM_001164749.2:c.1755C>A MANE Select	NP_001158221.1:p.Ser585Arg
NM_001165893.2:c.1665C>A	NP_001159365.1:p.Ser555Arg
NM_022123.3:c.1659C>A	NP_071406.1:p.Ser553Arg
NM_173159.3:c.1716C>A	NP_775182.1:p.Ser572Arg
NM_001394988.1:c.1710C>A	NP_001381917.1:p.Ser570Arg
NM_001394989.1:c.1656C>A	NP_001381918.1:p.Ser552Arg