Canonical Allele Identifier: CA389414337

Gene: NPAS3

Linked Data

• gnomAD v4: 14-33800581-G-T
• MyVariant Identifiers: chr14:g.34269787G>T (hg19) ; chr14:g.33800581G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800581G>T , CM000676.2:g.33800581G>T	GRCh38
NC_000014.8:g.34269787G>T , CM000676.1:g.34269787G>T	GRCh37
NC_000014.7:g.33339538G>T	NCBI36
NG_013036.1:g.866329G>T
NG_013036.2:g.866329G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000356141.9:c.2274G>T MANE Select	ENSP00000348460.4:p.Lys758Asn
ENST00000551634.6:c.2283G>T	ENSP00000448373.2:p.Lys761Asn
ENST00000680362.1:c.2174G>T
ENST00000681323.1:c.793+3000G>T
ENST00000346562.6:c.2178G>T	ENSP00000319610.5:p.Lys726Asn
ENST00000356141.8:c.2274G>T	ENSP00000348460.4:p.Lys758Asn
ENST00000357798.9:c.2235G>T	ENSP00000350446.5:p.Lys745Asn
ENST00000548645.5:c.2184G>T	ENSP00000448916.1:p.Lys728Asn
ENST00000551492.5:c.2289G>T	ENSP00000450392.1:p.Lys763Asn
ENST00000551634.5:c.2196G>T	ENSP00000448373.1:p.Lys732Asn
NM_001164749.1:c.2274G>T	NP_001158221.1:p.Lys758Asn
NM_001165893.1:c.2184G>T	NP_001159365.1:p.Lys728Asn
NM_022123.2:c.2178G>T	NP_071406.1:p.Lys726Asn
NM_173159.2:c.2235G>T	NP_775182.1:p.Lys745Asn
XM_005267991.2:c.2295G>T	XP_005268048.1:p.Lys765Asn
XM_005267992.2:c.2289G>T	XP_005268049.1:p.Lys763Asn
XM_005267993.2:c.2235G>T	XP_005268050.1:p.Lys745Asn
XM_011537067.1:c.2325G>T	XP_011535369.1:p.Lys775Asn
XM_011537068.1:c.2316G>T	XP_011535370.1:p.Lys772Asn
XM_011537069.1:c.2286G>T	XP_011535371.1:p.Lys762Asn
XM_011537070.1:c.2229G>T	XP_011535372.1:p.Lys743Asn
XM_011537071.1:c.2196G>T	XP_011535373.1:p.Lys732Asn
XM_011537072.1:c.2175G>T	XP_011535374.1:p.Lys725Asn
XM_011537073.1:c.1968G>T	XP_011535375.1:p.Lys656Asn
XM_011537074.1:c.1968G>T	XP_011535376.1:p.Lys656Asn
XM_005267991.3:c.2382G>T	XP_005268048.2:p.Lys794Asn
XM_005267992.3:c.2376G>T	XP_005268049.2:p.Lys792Asn
XM_011537067.2:c.2325G>T	XP_011535369.1:p.Lys775Asn
XM_011537069.2:c.2373G>T	XP_011535371.2:p.Lys791Asn
XM_011537070.2:c.2229G>T	XP_011535372.1:p.Lys743Asn
XM_011537071.2:c.2283G>T	XP_011535373.2:p.Lys761Asn
XM_011537072.2:c.2175G>T	XP_011535374.1:p.Lys725Asn
XM_017021582.1:c.2433G>T	XP_016877071.1:p.Lys811Asn
XM_017021583.1:c.2424G>T	XP_016877072.1:p.Lys808Asn
XM_017021584.1:c.2343G>T	XP_016877073.1:p.Lys781Asn
XM_017021585.1:c.2292G>T	XP_016877074.1:p.Lys764Asn
XM_017021586.1:c.1968G>T	XP_016877075.1:p.Lys656Asn
XM_017021587.1:c.1968G>T	XP_016877076.1:p.Lys656Asn
XM_017021588.1:c.1968G>T	XP_016877077.1:p.Lys656Asn
NM_001164749.2:c.2274G>T MANE Select	NP_001158221.1:p.Lys758Asn
NM_001165893.2:c.2184G>T	NP_001159365.1:p.Lys728Asn
NM_022123.3:c.2178G>T	NP_071406.1:p.Lys726Asn
NM_173159.3:c.2235G>T	NP_775182.1:p.Lys745Asn
NM_001394988.1:c.2229G>T	NP_001381917.1:p.Lys743Asn
NM_001394989.1:c.2175G>T	NP_001381918.1:p.Lys725Asn