Canonical Allele Identifier: CA486093445

Gene: NPAS3

Linked Data

• dbSNP Id: rs1163900819
• gnomAD v4: 14-33800584-C-T
• MyVariant Identifiers: chr14:g.34269790C>T (hg19) ; chr14:g.33800584C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800584C>T , CM000676.2:g.33800584C>T	GRCh38
NC_000014.8:g.34269790C>T , CM000676.1:g.34269790C>T	GRCh37
NC_000014.7:g.33339541C>T	NCBI36
NG_013036.1:g.866332C>T
NG_013036.2:g.866332C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000356141.9:c.2277C>T MANE Select	ENSP00000348460.4:p.His759=
ENST00000551634.6:c.2286C>T	ENSP00000448373.2:p.His762=
ENST00000680362.1:c.2177C>T
ENST00000681323.1:c.793+3003C>T
ENST00000346562.6:c.2181C>T	ENSP00000319610.5:p.His727=
ENST00000356141.8:c.2277C>T	ENSP00000348460.4:p.His759=
ENST00000357798.9:c.2238C>T	ENSP00000350446.5:p.His746=
ENST00000548645.5:c.2187C>T	ENSP00000448916.1:p.His729=
ENST00000551492.5:c.2292C>T	ENSP00000450392.1:p.His764=
ENST00000551634.5:c.2199C>T	ENSP00000448373.1:p.His733=
NM_001164749.1:c.2277C>T	NP_001158221.1:p.His759=
NM_001165893.1:c.2187C>T	NP_001159365.1:p.His729=
NM_022123.2:c.2181C>T	NP_071406.1:p.His727=
NM_173159.2:c.2238C>T	NP_775182.1:p.His746=
XM_005267991.2:c.2298C>T	XP_005268048.1:p.His766=
XM_005267992.2:c.2292C>T	XP_005268049.1:p.His764=
XM_005267993.2:c.2238C>T	XP_005268050.1:p.His746=
XM_011537067.1:c.2328C>T	XP_011535369.1:p.His776=
XM_011537068.1:c.2319C>T	XP_011535370.1:p.His773=
XM_011537069.1:c.2289C>T	XP_011535371.1:p.His763=
XM_011537070.1:c.2232C>T	XP_011535372.1:p.His744=
XM_011537071.1:c.2199C>T	XP_011535373.1:p.His733=
XM_011537072.1:c.2178C>T	XP_011535374.1:p.His726=
XM_011537073.1:c.1971C>T	XP_011535375.1:p.His657=
XM_011537074.1:c.1971C>T	XP_011535376.1:p.His657=
XM_005267991.3:c.2385C>T	XP_005268048.2:p.His795=
XM_005267992.3:c.2379C>T	XP_005268049.2:p.His793=
XM_011537067.2:c.2328C>T	XP_011535369.1:p.His776=
XM_011537069.2:c.2376C>T	XP_011535371.2:p.His792=
XM_011537070.2:c.2232C>T	XP_011535372.1:p.His744=
XM_011537071.2:c.2286C>T	XP_011535373.2:p.His762=
XM_011537072.2:c.2178C>T	XP_011535374.1:p.His726=
XM_017021582.1:c.2436C>T	XP_016877071.1:p.His812=
XM_017021583.1:c.2427C>T	XP_016877072.1:p.His809=
XM_017021584.1:c.2346C>T	XP_016877073.1:p.His782=
XM_017021585.1:c.2295C>T	XP_016877074.1:p.His765=
XM_017021586.1:c.1971C>T	XP_016877075.1:p.His657=
XM_017021587.1:c.1971C>T	XP_016877076.1:p.His657=
XM_017021588.1:c.1971C>T	XP_016877077.1:p.His657=
NM_001164749.2:c.2277C>T MANE Select	NP_001158221.1:p.His759=
NM_001165893.2:c.2187C>T	NP_001159365.1:p.His729=
NM_022123.3:c.2181C>T	NP_071406.1:p.His727=
NM_173159.3:c.2238C>T	NP_775182.1:p.His746=
NM_001394988.1:c.2232C>T	NP_001381917.1:p.His744=
NM_001394989.1:c.2178C>T	NP_001381918.1:p.His726=