Canonical Allele Identifier: CA389413456

Gene: NPAS3

Linked Data

• MyVariant Identifiers: chr14:g.34269512T>C (hg19) ; chr14:g.33800306T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800306T>C , CM000676.2:g.33800306T>C	GRCh38
NC_000014.8:g.34269512T>C , CM000676.1:g.34269512T>C	GRCh37
NC_000014.7:g.33339263T>C	NCBI36
NG_013036.1:g.866054T>C
NG_013036.2:g.866054T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1999T>C MANE Select	ENSP00000348460.4:p.Tyr667His
ENST00000551634.6:c.2008T>C	ENSP00000448373.2:p.Tyr670His
ENST00000680362.1:c.1899T>C
ENST00000681323.1:c.793+2725T>C
ENST00000346562.6:c.1903T>C	ENSP00000319610.5:p.Tyr635His
ENST00000356141.8:c.1999T>C	ENSP00000348460.4:p.Tyr667His
ENST00000357798.9:c.1960T>C	ENSP00000350446.5:p.Tyr654His
ENST00000548645.5:c.1909T>C	ENSP00000448916.1:p.Tyr637His
ENST00000551492.5:c.2014T>C	ENSP00000450392.1:p.Tyr672His
ENST00000551634.5:c.1921T>C	ENSP00000448373.1:p.Tyr641His
NM_001164749.1:c.1999T>C	NP_001158221.1:p.Tyr667His
NM_001165893.1:c.1909T>C	NP_001159365.1:p.Tyr637His
NM_022123.2:c.1903T>C	NP_071406.1:p.Tyr635His
NM_173159.2:c.1960T>C	NP_775182.1:p.Tyr654His
XM_005267991.2:c.2020T>C	XP_005268048.1:p.Tyr674His
XM_005267992.2:c.2014T>C	XP_005268049.1:p.Tyr672His
XM_005267993.2:c.1960T>C	XP_005268050.1:p.Tyr654His
XM_011537067.1:c.2050T>C	XP_011535369.1:p.Tyr684His
XM_011537068.1:c.2041T>C	XP_011535370.1:p.Tyr681His
XM_011537069.1:c.2011T>C	XP_011535371.1:p.Tyr671His
XM_011537070.1:c.1954T>C	XP_011535372.1:p.Tyr652His
XM_011537071.1:c.1921T>C	XP_011535373.1:p.Tyr641His
XM_011537072.1:c.1900T>C	XP_011535374.1:p.Tyr634His
XM_011537073.1:c.1693T>C	XP_011535375.1:p.Tyr565His
XM_011537074.1:c.1693T>C	XP_011535376.1:p.Tyr565His
XM_005267991.3:c.2107T>C	XP_005268048.2:p.Tyr703His
XM_005267992.3:c.2101T>C	XP_005268049.2:p.Tyr701His
XM_011537067.2:c.2050T>C	XP_011535369.1:p.Tyr684His
XM_011537069.2:c.2098T>C	XP_011535371.2:p.Tyr700His
XM_011537070.2:c.1954T>C	XP_011535372.1:p.Tyr652His
XM_011537071.2:c.2008T>C	XP_011535373.2:p.Tyr670His
XM_011537072.2:c.1900T>C	XP_011535374.1:p.Tyr634His
XM_017021582.1:c.2158T>C	XP_016877071.1:p.Tyr720His
XM_017021583.1:c.2149T>C	XP_016877072.1:p.Tyr717His
XM_017021584.1:c.2068T>C	XP_016877073.1:p.Tyr690His
XM_017021585.1:c.2017T>C	XP_016877074.1:p.Tyr673His
XM_017021586.1:c.1693T>C	XP_016877075.1:p.Tyr565His
XM_017021587.1:c.1693T>C	XP_016877076.1:p.Tyr565His
XM_017021588.1:c.1693T>C	XP_016877077.1:p.Tyr565His
NM_001164749.2:c.1999T>C MANE Select	NP_001158221.1:p.Tyr667His
NM_001165893.2:c.1909T>C	NP_001159365.1:p.Tyr637His
NM_022123.3:c.1903T>C	NP_071406.1:p.Tyr635His
NM_173159.3:c.1960T>C	NP_775182.1:p.Tyr654His
NM_001394988.1:c.1954T>C	NP_001381917.1:p.Tyr652His
NM_001394989.1:c.1900T>C	NP_001381918.1:p.Tyr634His