Canonical Allele Identifier: CA486093033

Gene: NPAS3

Linked Data

• gnomAD v4: 14-33800344-C-T
• MyVariant Identifiers: chr14:g.34269550C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800344C>T , CM000676.2:g.33800344C>T	GRCh38
NC_000014.8:g.34269550C>T , CM000676.1:g.34269550C>T	GRCh37
NC_000014.7:g.33339301C>T	NCBI36
NG_013036.1:g.866092C>T
NG_013036.2:g.866092C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.2037C>T MANE Select	ENSP00000348460.4:p.Pro679=
ENST00000551634.6:c.2046C>T	ENSP00000448373.2:p.Pro682=
ENST00000680362.1:c.1937C>T
ENST00000681323.1:c.793+2763C>T
ENST00000346562.6:c.1941C>T	ENSP00000319610.5:p.Pro647=
ENST00000356141.8:c.2037C>T	ENSP00000348460.4:p.Pro679=
ENST00000357798.9:c.1998C>T	ENSP00000350446.5:p.Pro666=
ENST00000548645.5:c.1947C>T	ENSP00000448916.1:p.Pro649=
ENST00000551492.5:c.2052C>T	ENSP00000450392.1:p.Pro684=
ENST00000551634.5:c.1959C>T	ENSP00000448373.1:p.Pro653=
NM_001164749.1:c.2037C>T	NP_001158221.1:p.Pro679=
NM_001165893.1:c.1947C>T	NP_001159365.1:p.Pro649=
NM_022123.2:c.1941C>T	NP_071406.1:p.Pro647=
NM_173159.2:c.1998C>T	NP_775182.1:p.Pro666=
XM_005267991.2:c.2058C>T	XP_005268048.1:p.Pro686=
XM_005267992.2:c.2052C>T	XP_005268049.1:p.Pro684=
XM_005267993.2:c.1998C>T	XP_005268050.1:p.Pro666=
XM_011537067.1:c.2088C>T	XP_011535369.1:p.Pro696=
XM_011537068.1:c.2079C>T	XP_011535370.1:p.Pro693=
XM_011537069.1:c.2049C>T	XP_011535371.1:p.Pro683=
XM_011537070.1:c.1992C>T	XP_011535372.1:p.Pro664=
XM_011537071.1:c.1959C>T	XP_011535373.1:p.Pro653=
XM_011537072.1:c.1938C>T	XP_011535374.1:p.Pro646=
XM_011537073.1:c.1731C>T	XP_011535375.1:p.Pro577=
XM_011537074.1:c.1731C>T	XP_011535376.1:p.Pro577=
XM_005267991.3:c.2145C>T	XP_005268048.2:p.Pro715=
XM_005267992.3:c.2139C>T	XP_005268049.2:p.Pro713=
XM_011537067.2:c.2088C>T	XP_011535369.1:p.Pro696=
XM_011537069.2:c.2136C>T	XP_011535371.2:p.Pro712=
XM_011537070.2:c.1992C>T	XP_011535372.1:p.Pro664=
XM_011537071.2:c.2046C>T	XP_011535373.2:p.Pro682=
XM_011537072.2:c.1938C>T	XP_011535374.1:p.Pro646=
XM_017021582.1:c.2196C>T	XP_016877071.1:p.Pro732=
XM_017021583.1:c.2187C>T	XP_016877072.1:p.Pro729=
XM_017021584.1:c.2106C>T	XP_016877073.1:p.Pro702=
XM_017021585.1:c.2055C>T	XP_016877074.1:p.Pro685=
XM_017021586.1:c.1731C>T	XP_016877075.1:p.Pro577=
XM_017021587.1:c.1731C>T	XP_016877076.1:p.Pro577=
XM_017021588.1:c.1731C>T	XP_016877077.1:p.Pro577=
NM_001164749.2:c.2037C>T MANE Select	NP_001158221.1:p.Pro679=
NM_001165893.2:c.1947C>T	NP_001159365.1:p.Pro649=
NM_022123.3:c.1941C>T	NP_071406.1:p.Pro647=
NM_173159.3:c.1998C>T	NP_775182.1:p.Pro666=
NM_001394988.1:c.1992C>T	NP_001381917.1:p.Pro664=
NM_001394989.1:c.1938C>T	NP_001381918.1:p.Pro646=