Canonical Allele Identifier: CA389414342

Gene: NPAS3

Linked Data

• gnomAD v4: 14-33800583-A-G
• MyVariant Identifiers: chr14:g.34269789A>G (hg19) ; chr14:g.33800583A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800583A>G , CM000676.2:g.33800583A>G	GRCh38
NC_000014.8:g.34269789A>G , CM000676.1:g.34269789A>G	GRCh37
NC_000014.7:g.33339540A>G	NCBI36
NG_013036.1:g.866331A>G
NG_013036.2:g.866331A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.2276A>G MANE Select	ENSP00000348460.4:p.His759Arg
ENST00000551634.6:c.2285A>G	ENSP00000448373.2:p.His762Arg
ENST00000680362.1:c.2176A>G
ENST00000681323.1:c.793+3002A>G
ENST00000346562.6:c.2180A>G	ENSP00000319610.5:p.His727Arg
ENST00000356141.8:c.2276A>G	ENSP00000348460.4:p.His759Arg
ENST00000357798.9:c.2237A>G	ENSP00000350446.5:p.His746Arg
ENST00000548645.5:c.2186A>G	ENSP00000448916.1:p.His729Arg
ENST00000551492.5:c.2291A>G	ENSP00000450392.1:p.His764Arg
ENST00000551634.5:c.2198A>G	ENSP00000448373.1:p.His733Arg
NM_001164749.1:c.2276A>G	NP_001158221.1:p.His759Arg
NM_001165893.1:c.2186A>G	NP_001159365.1:p.His729Arg
NM_022123.2:c.2180A>G	NP_071406.1:p.His727Arg
NM_173159.2:c.2237A>G	NP_775182.1:p.His746Arg
XM_005267991.2:c.2297A>G	XP_005268048.1:p.His766Arg
XM_005267992.2:c.2291A>G	XP_005268049.1:p.His764Arg
XM_005267993.2:c.2237A>G	XP_005268050.1:p.His746Arg
XM_011537067.1:c.2327A>G	XP_011535369.1:p.His776Arg
XM_011537068.1:c.2318A>G	XP_011535370.1:p.His773Arg
XM_011537069.1:c.2288A>G	XP_011535371.1:p.His763Arg
XM_011537070.1:c.2231A>G	XP_011535372.1:p.His744Arg
XM_011537071.1:c.2198A>G	XP_011535373.1:p.His733Arg
XM_011537072.1:c.2177A>G	XP_011535374.1:p.His726Arg
XM_011537073.1:c.1970A>G	XP_011535375.1:p.His657Arg
XM_011537074.1:c.1970A>G	XP_011535376.1:p.His657Arg
XM_005267991.3:c.2384A>G	XP_005268048.2:p.His795Arg
XM_005267992.3:c.2378A>G	XP_005268049.2:p.His793Arg
XM_011537067.2:c.2327A>G	XP_011535369.1:p.His776Arg
XM_011537069.2:c.2375A>G	XP_011535371.2:p.His792Arg
XM_011537070.2:c.2231A>G	XP_011535372.1:p.His744Arg
XM_011537071.2:c.2285A>G	XP_011535373.2:p.His762Arg
XM_011537072.2:c.2177A>G	XP_011535374.1:p.His726Arg
XM_017021582.1:c.2435A>G	XP_016877071.1:p.His812Arg
XM_017021583.1:c.2426A>G	XP_016877072.1:p.His809Arg
XM_017021584.1:c.2345A>G	XP_016877073.1:p.His782Arg
XM_017021585.1:c.2294A>G	XP_016877074.1:p.His765Arg
XM_017021586.1:c.1970A>G	XP_016877075.1:p.His657Arg
XM_017021587.1:c.1970A>G	XP_016877076.1:p.His657Arg
XM_017021588.1:c.1970A>G	XP_016877077.1:p.His657Arg
NM_001164749.2:c.2276A>G MANE Select	NP_001158221.1:p.His759Arg
NM_001165893.2:c.2186A>G	NP_001159365.1:p.His729Arg
NM_022123.3:c.2180A>G	NP_071406.1:p.His727Arg
NM_173159.3:c.2237A>G	NP_775182.1:p.His746Arg
NM_001394988.1:c.2231A>G	NP_001381917.1:p.His744Arg
NM_001394989.1:c.2177A>G	NP_001381918.1:p.His726Arg