Canonical Allele Identifier: CA389414335

Gene: NPAS3

Linked Data

• gnomAD v4: 14-33800580-A-T
• MyVariant Identifiers: chr14:g.34269786A>T (hg19) ; chr14:g.33800580A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800580A>T , CM000676.2:g.33800580A>T	GRCh38
NC_000014.8:g.34269786A>T , CM000676.1:g.34269786A>T	GRCh37
NC_000014.7:g.33339537A>T	NCBI36
NG_013036.1:g.866328A>T
NG_013036.2:g.866328A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.2273A>T MANE Select	ENSP00000348460.4:p.Lys758Met
ENST00000551634.6:c.2282A>T	ENSP00000448373.2:p.Lys761Met
ENST00000680362.1:c.2173A>T
ENST00000681323.1:c.793+2999A>T
ENST00000346562.6:c.2177A>T	ENSP00000319610.5:p.Lys726Met
ENST00000356141.8:c.2273A>T	ENSP00000348460.4:p.Lys758Met
ENST00000357798.9:c.2234A>T	ENSP00000350446.5:p.Lys745Met
ENST00000548645.5:c.2183A>T	ENSP00000448916.1:p.Lys728Met
ENST00000551492.5:c.2288A>T	ENSP00000450392.1:p.Lys763Met
ENST00000551634.5:c.2195A>T	ENSP00000448373.1:p.Lys732Met
NM_001164749.1:c.2273A>T	NP_001158221.1:p.Lys758Met
NM_001165893.1:c.2183A>T	NP_001159365.1:p.Lys728Met
NM_022123.2:c.2177A>T	NP_071406.1:p.Lys726Met
NM_173159.2:c.2234A>T	NP_775182.1:p.Lys745Met
XM_005267991.2:c.2294A>T	XP_005268048.1:p.Lys765Met
XM_005267992.2:c.2288A>T	XP_005268049.1:p.Lys763Met
XM_005267993.2:c.2234A>T	XP_005268050.1:p.Lys745Met
XM_011537067.1:c.2324A>T	XP_011535369.1:p.Lys775Met
XM_011537068.1:c.2315A>T	XP_011535370.1:p.Lys772Met
XM_011537069.1:c.2285A>T	XP_011535371.1:p.Lys762Met
XM_011537070.1:c.2228A>T	XP_011535372.1:p.Lys743Met
XM_011537071.1:c.2195A>T	XP_011535373.1:p.Lys732Met
XM_011537072.1:c.2174A>T	XP_011535374.1:p.Lys725Met
XM_011537073.1:c.1967A>T	XP_011535375.1:p.Lys656Met
XM_011537074.1:c.1967A>T	XP_011535376.1:p.Lys656Met
XM_005267991.3:c.2381A>T	XP_005268048.2:p.Lys794Met
XM_005267992.3:c.2375A>T	XP_005268049.2:p.Lys792Met
XM_011537067.2:c.2324A>T	XP_011535369.1:p.Lys775Met
XM_011537069.2:c.2372A>T	XP_011535371.2:p.Lys791Met
XM_011537070.2:c.2228A>T	XP_011535372.1:p.Lys743Met
XM_011537071.2:c.2282A>T	XP_011535373.2:p.Lys761Met
XM_011537072.2:c.2174A>T	XP_011535374.1:p.Lys725Met
XM_017021582.1:c.2432A>T	XP_016877071.1:p.Lys811Met
XM_017021583.1:c.2423A>T	XP_016877072.1:p.Lys808Met
XM_017021584.1:c.2342A>T	XP_016877073.1:p.Lys781Met
XM_017021585.1:c.2291A>T	XP_016877074.1:p.Lys764Met
XM_017021586.1:c.1967A>T	XP_016877075.1:p.Lys656Met
XM_017021587.1:c.1967A>T	XP_016877076.1:p.Lys656Met
XM_017021588.1:c.1967A>T	XP_016877077.1:p.Lys656Met
NM_001164749.2:c.2273A>T MANE Select	NP_001158221.1:p.Lys758Met
NM_001165893.2:c.2183A>T	NP_001159365.1:p.Lys728Met
NM_022123.3:c.2177A>T	NP_071406.1:p.Lys726Met
NM_173159.3:c.2234A>T	NP_775182.1:p.Lys745Met
NM_001394988.1:c.2228A>T	NP_001381917.1:p.Lys743Met
NM_001394989.1:c.2174A>T	NP_001381918.1:p.Lys725Met