Canonical Allele Identifier: CA389412335

Gene: NPAS3

Linked Data

• gnomAD v4: 14-33800083-G-T
• MyVariant Identifiers: chr14:g.34269289G>T (hg19) ; chr14:g.33800083G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800083G>T , CM000676.2:g.33800083G>T	GRCh38
NC_000014.8:g.34269289G>T , CM000676.1:g.34269289G>T	GRCh37
NC_000014.7:g.33339040G>T	NCBI36
NG_013036.1:g.865831G>T
NG_013036.2:g.865831G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1776G>T MANE Select	ENSP00000348460.4:p.Gln592His
ENST00000551634.6:c.1785G>T	ENSP00000448373.2:p.Gln595His
ENST00000680362.1:c.1676G>T
ENST00000681323.1:c.793+2502G>T
ENST00000346562.6:c.1680G>T	ENSP00000319610.5:p.Gln560His
ENST00000356141.8:c.1776G>T	ENSP00000348460.4:p.Gln592His
ENST00000357798.9:c.1737G>T	ENSP00000350446.5:p.Gln579His
ENST00000548645.5:c.1686G>T	ENSP00000448916.1:p.Gln562His
ENST00000551492.5:c.1791G>T	ENSP00000450392.1:p.Gln597His
ENST00000551634.5:c.1698G>T	ENSP00000448373.1:p.Gln566His
NM_001164749.1:c.1776G>T	NP_001158221.1:p.Gln592His
NM_001165893.1:c.1686G>T	NP_001159365.1:p.Gln562His
NM_022123.2:c.1680G>T	NP_071406.1:p.Gln560His
NM_173159.2:c.1737G>T	NP_775182.1:p.Gln579His
XM_005267991.2:c.1797G>T	XP_005268048.1:p.Gln599His
XM_005267992.2:c.1791G>T	XP_005268049.1:p.Gln597His
XM_005267993.2:c.1737G>T	XP_005268050.1:p.Gln579His
XM_011537067.1:c.1827G>T	XP_011535369.1:p.Gln609His
XM_011537068.1:c.1818G>T	XP_011535370.1:p.Gln606His
XM_011537069.1:c.1788G>T	XP_011535371.1:p.Gln596His
XM_011537070.1:c.1731G>T	XP_011535372.1:p.Gln577His
XM_011537071.1:c.1698G>T	XP_011535373.1:p.Gln566His
XM_011537072.1:c.1677G>T	XP_011535374.1:p.Gln559His
XM_011537073.1:c.1470G>T	XP_011535375.1:p.Gln490His
XM_011537074.1:c.1470G>T	XP_011535376.1:p.Gln490His
XM_005267991.3:c.1884G>T	XP_005268048.2:p.Gln628His
XM_005267992.3:c.1878G>T	XP_005268049.2:p.Gln626His
XM_011537067.2:c.1827G>T	XP_011535369.1:p.Gln609His
XM_011537069.2:c.1875G>T	XP_011535371.2:p.Gln625His
XM_011537070.2:c.1731G>T	XP_011535372.1:p.Gln577His
XM_011537071.2:c.1785G>T	XP_011535373.2:p.Gln595His
XM_011537072.2:c.1677G>T	XP_011535374.1:p.Gln559His
XM_017021582.1:c.1935G>T	XP_016877071.1:p.Gln645His
XM_017021583.1:c.1926G>T	XP_016877072.1:p.Gln642His
XM_017021584.1:c.1845G>T	XP_016877073.1:p.Gln615His
XM_017021585.1:c.1794G>T	XP_016877074.1:p.Gln598His
XM_017021586.1:c.1470G>T	XP_016877075.1:p.Gln490His
XM_017021587.1:c.1470G>T	XP_016877076.1:p.Gln490His
XM_017021588.1:c.1470G>T	XP_016877077.1:p.Gln490His
NM_001164749.2:c.1776G>T MANE Select	NP_001158221.1:p.Gln592His
NM_001165893.2:c.1686G>T	NP_001159365.1:p.Gln562His
NM_022123.3:c.1680G>T	NP_071406.1:p.Gln560His
NM_173159.3:c.1737G>T	NP_775182.1:p.Gln579His
NM_001394988.1:c.1731G>T	NP_001381917.1:p.Gln577His
NM_001394989.1:c.1677G>T	NP_001381918.1:p.Gln559His