Canonical Allele Identifier: CA389414358

Gene: NPAS3

Linked Data

• gnomAD v4: 14-33800591-A-C
• MyVariant Identifiers: chr14:g.34269797A>C (hg19) ; chr14:g.33800591A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800591A>C , CM000676.2:g.33800591A>C	GRCh38
NC_000014.8:g.34269797A>C , CM000676.1:g.34269797A>C	GRCh37
NC_000014.7:g.33339548A>C	NCBI36
NG_013036.1:g.866339A>C
NG_013036.2:g.866339A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.2284A>C MANE Select	ENSP00000348460.4:p.Asn762His
ENST00000551634.6:c.2293A>C	ENSP00000448373.2:p.Asn765His
ENST00000680362.1:c.2184A>C
ENST00000681323.1:c.793+3010A>C
ENST00000346562.6:c.2188A>C	ENSP00000319610.5:p.Asn730His
ENST00000356141.8:c.2284A>C	ENSP00000348460.4:p.Asn762His
ENST00000357798.9:c.2245A>C	ENSP00000350446.5:p.Asn749His
ENST00000548645.5:c.2194A>C	ENSP00000448916.1:p.Asn732His
ENST00000551492.5:c.2299A>C	ENSP00000450392.1:p.Asn767His
ENST00000551634.5:c.2206A>C	ENSP00000448373.1:p.Asn736His
NM_001164749.1:c.2284A>C	NP_001158221.1:p.Asn762His
NM_001165893.1:c.2194A>C	NP_001159365.1:p.Asn732His
NM_022123.2:c.2188A>C	NP_071406.1:p.Asn730His
NM_173159.2:c.2245A>C	NP_775182.1:p.Asn749His
XM_005267991.2:c.2305A>C	XP_005268048.1:p.Asn769His
XM_005267992.2:c.2299A>C	XP_005268049.1:p.Asn767His
XM_005267993.2:c.2245A>C	XP_005268050.1:p.Asn749His
XM_011537067.1:c.2335A>C	XP_011535369.1:p.Asn779His
XM_011537068.1:c.2326A>C	XP_011535370.1:p.Asn776His
XM_011537069.1:c.2296A>C	XP_011535371.1:p.Asn766His
XM_011537070.1:c.2239A>C	XP_011535372.1:p.Asn747His
XM_011537071.1:c.2206A>C	XP_011535373.1:p.Asn736His
XM_011537072.1:c.2185A>C	XP_011535374.1:p.Asn729His
XM_011537073.1:c.1978A>C	XP_011535375.1:p.Asn660His
XM_011537074.1:c.1978A>C	XP_011535376.1:p.Asn660His
XM_005267991.3:c.2392A>C	XP_005268048.2:p.Asn798His
XM_005267992.3:c.2386A>C	XP_005268049.2:p.Asn796His
XM_011537067.2:c.2335A>C	XP_011535369.1:p.Asn779His
XM_011537069.2:c.2383A>C	XP_011535371.2:p.Asn795His
XM_011537070.2:c.2239A>C	XP_011535372.1:p.Asn747His
XM_011537071.2:c.2293A>C	XP_011535373.2:p.Asn765His
XM_011537072.2:c.2185A>C	XP_011535374.1:p.Asn729His
XM_017021582.1:c.2443A>C	XP_016877071.1:p.Asn815His
XM_017021583.1:c.2434A>C	XP_016877072.1:p.Asn812His
XM_017021584.1:c.2353A>C	XP_016877073.1:p.Asn785His
XM_017021585.1:c.2302A>C	XP_016877074.1:p.Asn768His
XM_017021586.1:c.1978A>C	XP_016877075.1:p.Asn660His
XM_017021587.1:c.1978A>C	XP_016877076.1:p.Asn660His
XM_017021588.1:c.1978A>C	XP_016877077.1:p.Asn660His
NM_001164749.2:c.2284A>C MANE Select	NP_001158221.1:p.Asn762His
NM_001165893.2:c.2194A>C	NP_001159365.1:p.Asn732His
NM_022123.3:c.2188A>C	NP_071406.1:p.Asn730His
NM_173159.3:c.2245A>C	NP_775182.1:p.Asn749His
NM_001394988.1:c.2239A>C	NP_001381917.1:p.Asn747His
NM_001394989.1:c.2185A>C	NP_001381918.1:p.Asn729His