Canonical Allele Identifier: CA7150885

Gene: NPAS3

Linked Data

• dbSNP Id: rs766694241
• ExAC: 14:34269338 G / T
• gnomAD v2: 14-34269338-G-T
• gnomAD v4: 14-33800132-G-T
• MyVariant Identifiers: chr14:g.34269338G>T (hg19) ; chr14:g.33800132G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800132G>T , CM000676.2:g.33800132G>T	GRCh38
NC_000014.8:g.34269338G>T , CM000676.1:g.34269338G>T	GRCh37
NC_000014.7:g.33339089G>T	NCBI36
NG_013036.1:g.865880G>T
NG_013036.2:g.865880G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1825G>T MANE Select	ENSP00000348460.4:p.Gly609Cys
ENST00000551634.6:c.1834G>T	ENSP00000448373.2:p.Gly612Cys
ENST00000680362.1:c.1725G>T
ENST00000681323.1:c.793+2551G>T
ENST00000346562.6:c.1729G>T	ENSP00000319610.5:p.Gly577Cys
ENST00000356141.8:c.1825G>T	ENSP00000348460.4:p.Gly609Cys
ENST00000357798.9:c.1786G>T	ENSP00000350446.5:p.Gly596Cys
ENST00000548645.5:c.1735G>T	ENSP00000448916.1:p.Gly579Cys
ENST00000551492.5:c.1840G>T	ENSP00000450392.1:p.Gly614Cys
ENST00000551634.5:c.1747G>T	ENSP00000448373.1:p.Gly583Cys
NM_001164749.1:c.1825G>T	NP_001158221.1:p.Gly609Cys
NM_001165893.1:c.1735G>T	NP_001159365.1:p.Gly579Cys
NM_022123.2:c.1729G>T	NP_071406.1:p.Gly577Cys
NM_173159.2:c.1786G>T	NP_775182.1:p.Gly596Cys
XM_005267991.2:c.1846G>T	XP_005268048.1:p.Gly616Cys
XM_005267992.2:c.1840G>T	XP_005268049.1:p.Gly614Cys
XM_005267993.2:c.1786G>T	XP_005268050.1:p.Gly596Cys
XM_011537067.1:c.1876G>T	XP_011535369.1:p.Gly626Cys
XM_011537068.1:c.1867G>T	XP_011535370.1:p.Gly623Cys
XM_011537069.1:c.1837G>T	XP_011535371.1:p.Gly613Cys
XM_011537070.1:c.1780G>T	XP_011535372.1:p.Gly594Cys
XM_011537071.1:c.1747G>T	XP_011535373.1:p.Gly583Cys
XM_011537072.1:c.1726G>T	XP_011535374.1:p.Gly576Cys
XM_011537073.1:c.1519G>T	XP_011535375.1:p.Gly507Cys
XM_011537074.1:c.1519G>T	XP_011535376.1:p.Gly507Cys
XM_005267991.3:c.1933G>T	XP_005268048.2:p.Gly645Cys
XM_005267992.3:c.1927G>T	XP_005268049.2:p.Gly643Cys
XM_011537067.2:c.1876G>T	XP_011535369.1:p.Gly626Cys
XM_011537069.2:c.1924G>T	XP_011535371.2:p.Gly642Cys
XM_011537070.2:c.1780G>T	XP_011535372.1:p.Gly594Cys
XM_011537071.2:c.1834G>T	XP_011535373.2:p.Gly612Cys
XM_011537072.2:c.1726G>T	XP_011535374.1:p.Gly576Cys
XM_017021582.1:c.1984G>T	XP_016877071.1:p.Gly662Cys
XM_017021583.1:c.1975G>T	XP_016877072.1:p.Gly659Cys
XM_017021584.1:c.1894G>T	XP_016877073.1:p.Gly632Cys
XM_017021585.1:c.1843G>T	XP_016877074.1:p.Gly615Cys
XM_017021586.1:c.1519G>T	XP_016877075.1:p.Gly507Cys
XM_017021587.1:c.1519G>T	XP_016877076.1:p.Gly507Cys
XM_017021588.1:c.1519G>T	XP_016877077.1:p.Gly507Cys
NM_001164749.2:c.1825G>T MANE Select	NP_001158221.1:p.Gly609Cys
NM_001165893.2:c.1735G>T	NP_001159365.1:p.Gly579Cys
NM_022123.3:c.1729G>T	NP_071406.1:p.Gly577Cys
NM_173159.3:c.1786G>T	NP_775182.1:p.Gly596Cys
NM_001394988.1:c.1780G>T	NP_001381917.1:p.Gly594Cys
NM_001394989.1:c.1726G>T	NP_001381918.1:p.Gly576Cys