Canonical Allele Identifier: CA389412904

Gene: NPAS3

Linked Data

• gnomAD v4: 14-33800174-C-A
• MyVariant Identifiers: chr14:g.34269380C>A (hg19) ; chr14:g.33800174C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800174C>A , CM000676.2:g.33800174C>A	GRCh38
NC_000014.8:g.34269380C>A , CM000676.1:g.34269380C>A	GRCh37
NC_000014.7:g.33339131C>A	NCBI36
NG_013036.1:g.865922C>A
NG_013036.2:g.865922C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1867C>A MANE Select	ENSP00000348460.4:p.Pro623Thr
ENST00000551634.6:c.1876C>A	ENSP00000448373.2:p.Pro626Thr
ENST00000680362.1:c.1767C>A
ENST00000681323.1:c.793+2593C>A
ENST00000346562.6:c.1771C>A	ENSP00000319610.5:p.Pro591Thr
ENST00000356141.8:c.1867C>A	ENSP00000348460.4:p.Pro623Thr
ENST00000357798.9:c.1828C>A	ENSP00000350446.5:p.Pro610Thr
ENST00000548645.5:c.1777C>A	ENSP00000448916.1:p.Pro593Thr
ENST00000551492.5:c.1882C>A	ENSP00000450392.1:p.Pro628Thr
ENST00000551634.5:c.1789C>A	ENSP00000448373.1:p.Pro597Thr
NM_001164749.1:c.1867C>A	NP_001158221.1:p.Pro623Thr
NM_001165893.1:c.1777C>A	NP_001159365.1:p.Pro593Thr
NM_022123.2:c.1771C>A	NP_071406.1:p.Pro591Thr
NM_173159.2:c.1828C>A	NP_775182.1:p.Pro610Thr
XM_005267991.2:c.1888C>A	XP_005268048.1:p.Pro630Thr
XM_005267992.2:c.1882C>A	XP_005268049.1:p.Pro628Thr
XM_005267993.2:c.1828C>A	XP_005268050.1:p.Pro610Thr
XM_011537067.1:c.1918C>A	XP_011535369.1:p.Pro640Thr
XM_011537068.1:c.1909C>A	XP_011535370.1:p.Pro637Thr
XM_011537069.1:c.1879C>A	XP_011535371.1:p.Pro627Thr
XM_011537070.1:c.1822C>A	XP_011535372.1:p.Pro608Thr
XM_011537071.1:c.1789C>A	XP_011535373.1:p.Pro597Thr
XM_011537072.1:c.1768C>A	XP_011535374.1:p.Pro590Thr
XM_011537073.1:c.1561C>A	XP_011535375.1:p.Pro521Thr
XM_011537074.1:c.1561C>A	XP_011535376.1:p.Pro521Thr
XM_005267991.3:c.1975C>A	XP_005268048.2:p.Pro659Thr
XM_005267992.3:c.1969C>A	XP_005268049.2:p.Pro657Thr
XM_011537067.2:c.1918C>A	XP_011535369.1:p.Pro640Thr
XM_011537069.2:c.1966C>A	XP_011535371.2:p.Pro656Thr
XM_011537070.2:c.1822C>A	XP_011535372.1:p.Pro608Thr
XM_011537071.2:c.1876C>A	XP_011535373.2:p.Pro626Thr
XM_011537072.2:c.1768C>A	XP_011535374.1:p.Pro590Thr
XM_017021582.1:c.2026C>A	XP_016877071.1:p.Pro676Thr
XM_017021583.1:c.2017C>A	XP_016877072.1:p.Pro673Thr
XM_017021584.1:c.1936C>A	XP_016877073.1:p.Pro646Thr
XM_017021585.1:c.1885C>A	XP_016877074.1:p.Pro629Thr
XM_017021586.1:c.1561C>A	XP_016877075.1:p.Pro521Thr
XM_017021587.1:c.1561C>A	XP_016877076.1:p.Pro521Thr
XM_017021588.1:c.1561C>A	XP_016877077.1:p.Pro521Thr
NM_001164749.2:c.1867C>A MANE Select	NP_001158221.1:p.Pro623Thr
NM_001165893.2:c.1777C>A	NP_001159365.1:p.Pro593Thr
NM_022123.3:c.1771C>A	NP_071406.1:p.Pro591Thr
NM_173159.3:c.1828C>A	NP_775182.1:p.Pro610Thr
NM_001394988.1:c.1822C>A	NP_001381917.1:p.Pro608Thr
NM_001394989.1:c.1768C>A	NP_001381918.1:p.Pro590Thr