Canonical Allele Identifier: CA389412237

Gene: NPAS3

Linked Data

• gnomAD v4: 14-33800067-G-T
• MyVariant Identifiers: chr14:g.34269273G>T (hg19) ; chr14:g.33800067G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800067G>T , CM000676.2:g.33800067G>T	GRCh38
NC_000014.8:g.34269273G>T , CM000676.1:g.34269273G>T	GRCh37
NC_000014.7:g.33339024G>T	NCBI36
NG_013036.1:g.865815G>T
NG_013036.2:g.865815G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1760G>T MANE Select	ENSP00000348460.4:p.Gly587Val
ENST00000551634.6:c.1769G>T	ENSP00000448373.2:p.Gly590Val
ENST00000680362.1:c.1660G>T
ENST00000681323.1:c.793+2486G>T
ENST00000346562.6:c.1664G>T	ENSP00000319610.5:p.Gly555Val
ENST00000356141.8:c.1760G>T	ENSP00000348460.4:p.Gly587Val
ENST00000357798.9:c.1721G>T	ENSP00000350446.5:p.Gly574Val
ENST00000548645.5:c.1670G>T	ENSP00000448916.1:p.Gly557Val
ENST00000551492.5:c.1775G>T	ENSP00000450392.1:p.Gly592Val
ENST00000551634.5:c.1682G>T	ENSP00000448373.1:p.Gly561Val
NM_001164749.1:c.1760G>T	NP_001158221.1:p.Gly587Val
NM_001165893.1:c.1670G>T	NP_001159365.1:p.Gly557Val
NM_022123.2:c.1664G>T	NP_071406.1:p.Gly555Val
NM_173159.2:c.1721G>T	NP_775182.1:p.Gly574Val
XM_005267991.2:c.1781G>T	XP_005268048.1:p.Gly594Val
XM_005267992.2:c.1775G>T	XP_005268049.1:p.Gly592Val
XM_005267993.2:c.1721G>T	XP_005268050.1:p.Gly574Val
XM_011537067.1:c.1811G>T	XP_011535369.1:p.Gly604Val
XM_011537068.1:c.1802G>T	XP_011535370.1:p.Gly601Val
XM_011537069.1:c.1772G>T	XP_011535371.1:p.Gly591Val
XM_011537070.1:c.1715G>T	XP_011535372.1:p.Gly572Val
XM_011537071.1:c.1682G>T	XP_011535373.1:p.Gly561Val
XM_011537072.1:c.1661G>T	XP_011535374.1:p.Gly554Val
XM_011537073.1:c.1454G>T	XP_011535375.1:p.Gly485Val
XM_011537074.1:c.1454G>T	XP_011535376.1:p.Gly485Val
XM_005267991.3:c.1868G>T	XP_005268048.2:p.Gly623Val
XM_005267992.3:c.1862G>T	XP_005268049.2:p.Gly621Val
XM_011537067.2:c.1811G>T	XP_011535369.1:p.Gly604Val
XM_011537069.2:c.1859G>T	XP_011535371.2:p.Gly620Val
XM_011537070.2:c.1715G>T	XP_011535372.1:p.Gly572Val
XM_011537071.2:c.1769G>T	XP_011535373.2:p.Gly590Val
XM_011537072.2:c.1661G>T	XP_011535374.1:p.Gly554Val
XM_017021582.1:c.1919G>T	XP_016877071.1:p.Gly640Val
XM_017021583.1:c.1910G>T	XP_016877072.1:p.Gly637Val
XM_017021584.1:c.1829G>T	XP_016877073.1:p.Gly610Val
XM_017021585.1:c.1778G>T	XP_016877074.1:p.Gly593Val
XM_017021586.1:c.1454G>T	XP_016877075.1:p.Gly485Val
XM_017021587.1:c.1454G>T	XP_016877076.1:p.Gly485Val
XM_017021588.1:c.1454G>T	XP_016877077.1:p.Gly485Val
NM_001164749.2:c.1760G>T MANE Select	NP_001158221.1:p.Gly587Val
NM_001165893.2:c.1670G>T	NP_001159365.1:p.Gly557Val
NM_022123.3:c.1664G>T	NP_071406.1:p.Gly555Val
NM_173159.3:c.1721G>T	NP_775182.1:p.Gly574Val
NM_001394988.1:c.1715G>T	NP_001381917.1:p.Gly572Val
NM_001394989.1:c.1661G>T	NP_001381918.1:p.Gly554Val