Canonical Allele Identifier: CA486093214

Gene: NPAS3

Linked Data

• dbSNP Id: rs1270956502
• gnomAD v4: 14-33800473-C-T
• MyVariant Identifiers: chr14:g.34269679C>T (hg19) ; chr14:g.33800473C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800473C>T , CM000676.2:g.33800473C>T	GRCh38
NC_000014.8:g.34269679C>T , CM000676.1:g.34269679C>T	GRCh37
NC_000014.7:g.33339430C>T	NCBI36
NG_013036.1:g.866221C>T
NG_013036.2:g.866221C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000356141.9:c.2166C>T MANE Select	ENSP00000348460.4:p.Asp722=
ENST00000551634.6:c.2175C>T	ENSP00000448373.2:p.Asp725=
ENST00000680362.1:c.2066C>T
ENST00000681323.1:c.793+2892C>T
ENST00000346562.6:c.2070C>T	ENSP00000319610.5:p.Asp690=
ENST00000356141.8:c.2166C>T	ENSP00000348460.4:p.Asp722=
ENST00000357798.9:c.2127C>T	ENSP00000350446.5:p.Asp709=
ENST00000548645.5:c.2076C>T	ENSP00000448916.1:p.Asp692=
ENST00000551492.5:c.2181C>T	ENSP00000450392.1:p.Asp727=
ENST00000551634.5:c.2088C>T	ENSP00000448373.1:p.Asp696=
NM_001164749.1:c.2166C>T	NP_001158221.1:p.Asp722=
NM_001165893.1:c.2076C>T	NP_001159365.1:p.Asp692=
NM_022123.2:c.2070C>T	NP_071406.1:p.Asp690=
NM_173159.2:c.2127C>T	NP_775182.1:p.Asp709=
XM_005267991.2:c.2187C>T	XP_005268048.1:p.Asp729=
XM_005267992.2:c.2181C>T	XP_005268049.1:p.Asp727=
XM_005267993.2:c.2127C>T	XP_005268050.1:p.Asp709=
XM_011537067.1:c.2217C>T	XP_011535369.1:p.Asp739=
XM_011537068.1:c.2208C>T	XP_011535370.1:p.Asp736=
XM_011537069.1:c.2178C>T	XP_011535371.1:p.Asp726=
XM_011537070.1:c.2121C>T	XP_011535372.1:p.Asp707=
XM_011537071.1:c.2088C>T	XP_011535373.1:p.Asp696=
XM_011537072.1:c.2067C>T	XP_011535374.1:p.Asp689=
XM_011537073.1:c.1860C>T	XP_011535375.1:p.Asp620=
XM_011537074.1:c.1860C>T	XP_011535376.1:p.Asp620=
XM_005267991.3:c.2274C>T	XP_005268048.2:p.Asp758=
XM_005267992.3:c.2268C>T	XP_005268049.2:p.Asp756=
XM_011537067.2:c.2217C>T	XP_011535369.1:p.Asp739=
XM_011537069.2:c.2265C>T	XP_011535371.2:p.Asp755=
XM_011537070.2:c.2121C>T	XP_011535372.1:p.Asp707=
XM_011537071.2:c.2175C>T	XP_011535373.2:p.Asp725=
XM_011537072.2:c.2067C>T	XP_011535374.1:p.Asp689=
XM_017021582.1:c.2325C>T	XP_016877071.1:p.Asp775=
XM_017021583.1:c.2316C>T	XP_016877072.1:p.Asp772=
XM_017021584.1:c.2235C>T	XP_016877073.1:p.Asp745=
XM_017021585.1:c.2184C>T	XP_016877074.1:p.Asp728=
XM_017021586.1:c.1860C>T	XP_016877075.1:p.Asp620=
XM_017021587.1:c.1860C>T	XP_016877076.1:p.Asp620=
XM_017021588.1:c.1860C>T	XP_016877077.1:p.Asp620=
NM_001164749.2:c.2166C>T MANE Select	NP_001158221.1:p.Asp722=
NM_001165893.2:c.2076C>T	NP_001159365.1:p.Asp692=
NM_022123.3:c.2070C>T	NP_071406.1:p.Asp690=
NM_173159.3:c.2127C>T	NP_775182.1:p.Asp709=
NM_001394988.1:c.2121C>T	NP_001381917.1:p.Asp707=
NM_001394989.1:c.2067C>T	NP_001381918.1:p.Asp689=