Canonical Allele Identifier: CA389414331

Gene: NPAS3

Linked Data

• dbSNP Id: rs1302017859
• gnomAD v4: 14-33800579-A-G
• MyVariant Identifiers: chr14:g.34269785A>G (hg19) ; chr14:g.33800579A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800579A>G , CM000676.2:g.33800579A>G	GRCh38
NC_000014.8:g.34269785A>G , CM000676.1:g.34269785A>G	GRCh37
NC_000014.7:g.33339536A>G	NCBI36
NG_013036.1:g.866327A>G
NG_013036.2:g.866327A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.2272A>G MANE Select	ENSP00000348460.4:p.Lys758Glu
ENST00000551634.6:c.2281A>G	ENSP00000448373.2:p.Lys761Glu
ENST00000680362.1:c.2172A>G
ENST00000681323.1:c.793+2998A>G
ENST00000346562.6:c.2176A>G	ENSP00000319610.5:p.Lys726Glu
ENST00000356141.8:c.2272A>G	ENSP00000348460.4:p.Lys758Glu
ENST00000357798.9:c.2233A>G	ENSP00000350446.5:p.Lys745Glu
ENST00000548645.5:c.2182A>G	ENSP00000448916.1:p.Lys728Glu
ENST00000551492.5:c.2287A>G	ENSP00000450392.1:p.Lys763Glu
ENST00000551634.5:c.2194A>G	ENSP00000448373.1:p.Lys732Glu
NM_001164749.1:c.2272A>G	NP_001158221.1:p.Lys758Glu
NM_001165893.1:c.2182A>G	NP_001159365.1:p.Lys728Glu
NM_022123.2:c.2176A>G	NP_071406.1:p.Lys726Glu
NM_173159.2:c.2233A>G	NP_775182.1:p.Lys745Glu
XM_005267991.2:c.2293A>G	XP_005268048.1:p.Lys765Glu
XM_005267992.2:c.2287A>G	XP_005268049.1:p.Lys763Glu
XM_005267993.2:c.2233A>G	XP_005268050.1:p.Lys745Glu
XM_011537067.1:c.2323A>G	XP_011535369.1:p.Lys775Glu
XM_011537068.1:c.2314A>G	XP_011535370.1:p.Lys772Glu
XM_011537069.1:c.2284A>G	XP_011535371.1:p.Lys762Glu
XM_011537070.1:c.2227A>G	XP_011535372.1:p.Lys743Glu
XM_011537071.1:c.2194A>G	XP_011535373.1:p.Lys732Glu
XM_011537072.1:c.2173A>G	XP_011535374.1:p.Lys725Glu
XM_011537073.1:c.1966A>G	XP_011535375.1:p.Lys656Glu
XM_011537074.1:c.1966A>G	XP_011535376.1:p.Lys656Glu
XM_005267991.3:c.2380A>G	XP_005268048.2:p.Lys794Glu
XM_005267992.3:c.2374A>G	XP_005268049.2:p.Lys792Glu
XM_011537067.2:c.2323A>G	XP_011535369.1:p.Lys775Glu
XM_011537069.2:c.2371A>G	XP_011535371.2:p.Lys791Glu
XM_011537070.2:c.2227A>G	XP_011535372.1:p.Lys743Glu
XM_011537071.2:c.2281A>G	XP_011535373.2:p.Lys761Glu
XM_011537072.2:c.2173A>G	XP_011535374.1:p.Lys725Glu
XM_017021582.1:c.2431A>G	XP_016877071.1:p.Lys811Glu
XM_017021583.1:c.2422A>G	XP_016877072.1:p.Lys808Glu
XM_017021584.1:c.2341A>G	XP_016877073.1:p.Lys781Glu
XM_017021585.1:c.2290A>G	XP_016877074.1:p.Lys764Glu
XM_017021586.1:c.1966A>G	XP_016877075.1:p.Lys656Glu
XM_017021587.1:c.1966A>G	XP_016877076.1:p.Lys656Glu
XM_017021588.1:c.1966A>G	XP_016877077.1:p.Lys656Glu
NM_001164749.2:c.2272A>G MANE Select	NP_001158221.1:p.Lys758Glu
NM_001165893.2:c.2182A>G	NP_001159365.1:p.Lys728Glu
NM_022123.3:c.2176A>G	NP_071406.1:p.Lys726Glu
NM_173159.3:c.2233A>G	NP_775182.1:p.Lys745Glu
NM_001394988.1:c.2227A>G	NP_001381917.1:p.Lys743Glu
NM_001394989.1:c.2173A>G	NP_001381918.1:p.Lys725Glu