Canonical Allele Identifier: CA486092811

Gene: NPAS3

Linked Data

• gnomAD v4: 14-33800131-G-A
• MyVariant Identifiers: chr14:g.34269337G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800131G>A , CM000676.2:g.33800131G>A	GRCh38
NC_000014.8:g.34269337G>A , CM000676.1:g.34269337G>A	GRCh37
NC_000014.7:g.33339088G>A	NCBI36
NG_013036.1:g.865879G>A
NG_013036.2:g.865879G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1824G>A MANE Select	ENSP00000348460.4:p.Lys608=
ENST00000551634.6:c.1833G>A	ENSP00000448373.2:p.Lys611=
ENST00000680362.1:c.1724G>A
ENST00000681323.1:c.793+2550G>A
ENST00000346562.6:c.1728G>A	ENSP00000319610.5:p.Lys576=
ENST00000356141.8:c.1824G>A	ENSP00000348460.4:p.Lys608=
ENST00000357798.9:c.1785G>A	ENSP00000350446.5:p.Lys595=
ENST00000548645.5:c.1734G>A	ENSP00000448916.1:p.Lys578=
ENST00000551492.5:c.1839G>A	ENSP00000450392.1:p.Lys613=
ENST00000551634.5:c.1746G>A	ENSP00000448373.1:p.Lys582=
NM_001164749.1:c.1824G>A	NP_001158221.1:p.Lys608=
NM_001165893.1:c.1734G>A	NP_001159365.1:p.Lys578=
NM_022123.2:c.1728G>A	NP_071406.1:p.Lys576=
NM_173159.2:c.1785G>A	NP_775182.1:p.Lys595=
XM_005267991.2:c.1845G>A	XP_005268048.1:p.Lys615=
XM_005267992.2:c.1839G>A	XP_005268049.1:p.Lys613=
XM_005267993.2:c.1785G>A	XP_005268050.1:p.Lys595=
XM_011537067.1:c.1875G>A	XP_011535369.1:p.Lys625=
XM_011537068.1:c.1866G>A	XP_011535370.1:p.Lys622=
XM_011537069.1:c.1836G>A	XP_011535371.1:p.Lys612=
XM_011537070.1:c.1779G>A	XP_011535372.1:p.Lys593=
XM_011537071.1:c.1746G>A	XP_011535373.1:p.Lys582=
XM_011537072.1:c.1725G>A	XP_011535374.1:p.Lys575=
XM_011537073.1:c.1518G>A	XP_011535375.1:p.Lys506=
XM_011537074.1:c.1518G>A	XP_011535376.1:p.Lys506=
XM_005267991.3:c.1932G>A	XP_005268048.2:p.Lys644=
XM_005267992.3:c.1926G>A	XP_005268049.2:p.Lys642=
XM_011537067.2:c.1875G>A	XP_011535369.1:p.Lys625=
XM_011537069.2:c.1923G>A	XP_011535371.2:p.Lys641=
XM_011537070.2:c.1779G>A	XP_011535372.1:p.Lys593=
XM_011537071.2:c.1833G>A	XP_011535373.2:p.Lys611=
XM_011537072.2:c.1725G>A	XP_011535374.1:p.Lys575=
XM_017021582.1:c.1983G>A	XP_016877071.1:p.Lys661=
XM_017021583.1:c.1974G>A	XP_016877072.1:p.Lys658=
XM_017021584.1:c.1893G>A	XP_016877073.1:p.Lys631=
XM_017021585.1:c.1842G>A	XP_016877074.1:p.Lys614=
XM_017021586.1:c.1518G>A	XP_016877075.1:p.Lys506=
XM_017021587.1:c.1518G>A	XP_016877076.1:p.Lys506=
XM_017021588.1:c.1518G>A	XP_016877077.1:p.Lys506=
NM_001164749.2:c.1824G>A MANE Select	NP_001158221.1:p.Lys608=
NM_001165893.2:c.1734G>A	NP_001159365.1:p.Lys578=
NM_022123.3:c.1728G>A	NP_071406.1:p.Lys576=
NM_173159.3:c.1785G>A	NP_775182.1:p.Lys595=
NM_001394988.1:c.1779G>A	NP_001381917.1:p.Lys593=
NM_001394989.1:c.1725G>A	NP_001381918.1:p.Lys575=