Canonical Allele Identifier: CA389412292

Gene: NPAS3

Linked Data

• gnomAD v4: 14-33800075-G-T
• MyVariant Identifiers: chr14:g.34269281G>T (hg19) ; chr14:g.33800075G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800075G>T , CM000676.2:g.33800075G>T	GRCh38
NC_000014.8:g.34269281G>T , CM000676.1:g.34269281G>T	GRCh37
NC_000014.7:g.33339032G>T	NCBI36
NG_013036.1:g.865823G>T
NG_013036.2:g.865823G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1768G>T MANE Select	ENSP00000348460.4:p.Gly590Cys
ENST00000551634.6:c.1777G>T	ENSP00000448373.2:p.Gly593Cys
ENST00000680362.1:c.1668G>T
ENST00000681323.1:c.793+2494G>T
ENST00000346562.6:c.1672G>T	ENSP00000319610.5:p.Gly558Cys
ENST00000356141.8:c.1768G>T	ENSP00000348460.4:p.Gly590Cys
ENST00000357798.9:c.1729G>T	ENSP00000350446.5:p.Gly577Cys
ENST00000548645.5:c.1678G>T	ENSP00000448916.1:p.Gly560Cys
ENST00000551492.5:c.1783G>T	ENSP00000450392.1:p.Gly595Cys
ENST00000551634.5:c.1690G>T	ENSP00000448373.1:p.Gly564Cys
NM_001164749.1:c.1768G>T	NP_001158221.1:p.Gly590Cys
NM_001165893.1:c.1678G>T	NP_001159365.1:p.Gly560Cys
NM_022123.2:c.1672G>T	NP_071406.1:p.Gly558Cys
NM_173159.2:c.1729G>T	NP_775182.1:p.Gly577Cys
XM_005267991.2:c.1789G>T	XP_005268048.1:p.Gly597Cys
XM_005267992.2:c.1783G>T	XP_005268049.1:p.Gly595Cys
XM_005267993.2:c.1729G>T	XP_005268050.1:p.Gly577Cys
XM_011537067.1:c.1819G>T	XP_011535369.1:p.Gly607Cys
XM_011537068.1:c.1810G>T	XP_011535370.1:p.Gly604Cys
XM_011537069.1:c.1780G>T	XP_011535371.1:p.Gly594Cys
XM_011537070.1:c.1723G>T	XP_011535372.1:p.Gly575Cys
XM_011537071.1:c.1690G>T	XP_011535373.1:p.Gly564Cys
XM_011537072.1:c.1669G>T	XP_011535374.1:p.Gly557Cys
XM_011537073.1:c.1462G>T	XP_011535375.1:p.Gly488Cys
XM_011537074.1:c.1462G>T	XP_011535376.1:p.Gly488Cys
XM_005267991.3:c.1876G>T	XP_005268048.2:p.Gly626Cys
XM_005267992.3:c.1870G>T	XP_005268049.2:p.Gly624Cys
XM_011537067.2:c.1819G>T	XP_011535369.1:p.Gly607Cys
XM_011537069.2:c.1867G>T	XP_011535371.2:p.Gly623Cys
XM_011537070.2:c.1723G>T	XP_011535372.1:p.Gly575Cys
XM_011537071.2:c.1777G>T	XP_011535373.2:p.Gly593Cys
XM_011537072.2:c.1669G>T	XP_011535374.1:p.Gly557Cys
XM_017021582.1:c.1927G>T	XP_016877071.1:p.Gly643Cys
XM_017021583.1:c.1918G>T	XP_016877072.1:p.Gly640Cys
XM_017021584.1:c.1837G>T	XP_016877073.1:p.Gly613Cys
XM_017021585.1:c.1786G>T	XP_016877074.1:p.Gly596Cys
XM_017021586.1:c.1462G>T	XP_016877075.1:p.Gly488Cys
XM_017021587.1:c.1462G>T	XP_016877076.1:p.Gly488Cys
XM_017021588.1:c.1462G>T	XP_016877077.1:p.Gly488Cys
NM_001164749.2:c.1768G>T MANE Select	NP_001158221.1:p.Gly590Cys
NM_001165893.2:c.1678G>T	NP_001159365.1:p.Gly560Cys
NM_022123.3:c.1672G>T	NP_071406.1:p.Gly558Cys
NM_173159.3:c.1729G>T	NP_775182.1:p.Gly577Cys
NM_001394988.1:c.1723G>T	NP_001381917.1:p.Gly575Cys
NM_001394989.1:c.1669G>T	NP_001381918.1:p.Gly557Cys