Canonical Allele Identifier: CA389412637

Gene: NPAS3

Linked Data

• gnomAD v4: 14-33800129-A-G
• MyVariant Identifiers: chr14:g.34269335A>G (hg19) ; chr14:g.33800129A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800129A>G , CM000676.2:g.33800129A>G	GRCh38
NC_000014.8:g.34269335A>G , CM000676.1:g.34269335A>G	GRCh37
NC_000014.7:g.33339086A>G	NCBI36
NG_013036.1:g.865877A>G
NG_013036.2:g.865877A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1822A>G MANE Select	ENSP00000348460.4:p.Lys608Glu
ENST00000551634.6:c.1831A>G	ENSP00000448373.2:p.Lys611Glu
ENST00000680362.1:c.1722A>G
ENST00000681323.1:c.793+2548A>G
ENST00000346562.6:c.1726A>G	ENSP00000319610.5:p.Lys576Glu
ENST00000356141.8:c.1822A>G	ENSP00000348460.4:p.Lys608Glu
ENST00000357798.9:c.1783A>G	ENSP00000350446.5:p.Lys595Glu
ENST00000548645.5:c.1732A>G	ENSP00000448916.1:p.Lys578Glu
ENST00000551492.5:c.1837A>G	ENSP00000450392.1:p.Lys613Glu
ENST00000551634.5:c.1744A>G	ENSP00000448373.1:p.Lys582Glu
NM_001164749.1:c.1822A>G	NP_001158221.1:p.Lys608Glu
NM_001165893.1:c.1732A>G	NP_001159365.1:p.Lys578Glu
NM_022123.2:c.1726A>G	NP_071406.1:p.Lys576Glu
NM_173159.2:c.1783A>G	NP_775182.1:p.Lys595Glu
XM_005267991.2:c.1843A>G	XP_005268048.1:p.Lys615Glu
XM_005267992.2:c.1837A>G	XP_005268049.1:p.Lys613Glu
XM_005267993.2:c.1783A>G	XP_005268050.1:p.Lys595Glu
XM_011537067.1:c.1873A>G	XP_011535369.1:p.Lys625Glu
XM_011537068.1:c.1864A>G	XP_011535370.1:p.Lys622Glu
XM_011537069.1:c.1834A>G	XP_011535371.1:p.Lys612Glu
XM_011537070.1:c.1777A>G	XP_011535372.1:p.Lys593Glu
XM_011537071.1:c.1744A>G	XP_011535373.1:p.Lys582Glu
XM_011537072.1:c.1723A>G	XP_011535374.1:p.Lys575Glu
XM_011537073.1:c.1516A>G	XP_011535375.1:p.Lys506Glu
XM_011537074.1:c.1516A>G	XP_011535376.1:p.Lys506Glu
XM_005267991.3:c.1930A>G	XP_005268048.2:p.Lys644Glu
XM_005267992.3:c.1924A>G	XP_005268049.2:p.Lys642Glu
XM_011537067.2:c.1873A>G	XP_011535369.1:p.Lys625Glu
XM_011537069.2:c.1921A>G	XP_011535371.2:p.Lys641Glu
XM_011537070.2:c.1777A>G	XP_011535372.1:p.Lys593Glu
XM_011537071.2:c.1831A>G	XP_011535373.2:p.Lys611Glu
XM_011537072.2:c.1723A>G	XP_011535374.1:p.Lys575Glu
XM_017021582.1:c.1981A>G	XP_016877071.1:p.Lys661Glu
XM_017021583.1:c.1972A>G	XP_016877072.1:p.Lys658Glu
XM_017021584.1:c.1891A>G	XP_016877073.1:p.Lys631Glu
XM_017021585.1:c.1840A>G	XP_016877074.1:p.Lys614Glu
XM_017021586.1:c.1516A>G	XP_016877075.1:p.Lys506Glu
XM_017021587.1:c.1516A>G	XP_016877076.1:p.Lys506Glu
XM_017021588.1:c.1516A>G	XP_016877077.1:p.Lys506Glu
NM_001164749.2:c.1822A>G MANE Select	NP_001158221.1:p.Lys608Glu
NM_001165893.2:c.1732A>G	NP_001159365.1:p.Lys578Glu
NM_022123.3:c.1726A>G	NP_071406.1:p.Lys576Glu
NM_173159.3:c.1783A>G	NP_775182.1:p.Lys595Glu
NM_001394988.1:c.1777A>G	NP_001381917.1:p.Lys593Glu
NM_001394989.1:c.1723A>G	NP_001381918.1:p.Lys575Glu