Canonical Allele Identifier: CA486093164

Gene: NPAS3

Linked Data

• MyVariant Identifiers: chr14:g.34269646T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800440T>C , CM000676.2:g.33800440T>C	GRCh38
NC_000014.8:g.34269646T>C , CM000676.1:g.34269646T>C	GRCh37
NC_000014.7:g.33339397T>C	NCBI36
NG_013036.1:g.866188T>C
NG_013036.2:g.866188T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.2133T>C MANE Select	ENSP00000348460.4:p.Ile711=
ENST00000551634.6:c.2142T>C	ENSP00000448373.2:p.Ile714=
ENST00000680362.1:c.2033T>C
ENST00000681323.1:c.793+2859T>C
ENST00000346562.6:c.2037T>C	ENSP00000319610.5:p.Ile679=
ENST00000356141.8:c.2133T>C	ENSP00000348460.4:p.Ile711=
ENST00000357798.9:c.2094T>C	ENSP00000350446.5:p.Ile698=
ENST00000548645.5:c.2043T>C	ENSP00000448916.1:p.Ile681=
ENST00000551492.5:c.2148T>C	ENSP00000450392.1:p.Ile716=
ENST00000551634.5:c.2055T>C	ENSP00000448373.1:p.Ile685=
NM_001164749.1:c.2133T>C	NP_001158221.1:p.Ile711=
NM_001165893.1:c.2043T>C	NP_001159365.1:p.Ile681=
NM_022123.2:c.2037T>C	NP_071406.1:p.Ile679=
NM_173159.2:c.2094T>C	NP_775182.1:p.Ile698=
XM_005267991.2:c.2154T>C	XP_005268048.1:p.Ile718=
XM_005267992.2:c.2148T>C	XP_005268049.1:p.Ile716=
XM_005267993.2:c.2094T>C	XP_005268050.1:p.Ile698=
XM_011537067.1:c.2184T>C	XP_011535369.1:p.Ile728=
XM_011537068.1:c.2175T>C	XP_011535370.1:p.Ile725=
XM_011537069.1:c.2145T>C	XP_011535371.1:p.Ile715=
XM_011537070.1:c.2088T>C	XP_011535372.1:p.Ile696=
XM_011537071.1:c.2055T>C	XP_011535373.1:p.Ile685=
XM_011537072.1:c.2034T>C	XP_011535374.1:p.Ile678=
XM_011537073.1:c.1827T>C	XP_011535375.1:p.Ile609=
XM_011537074.1:c.1827T>C	XP_011535376.1:p.Ile609=
XM_005267991.3:c.2241T>C	XP_005268048.2:p.Ile747=
XM_005267992.3:c.2235T>C	XP_005268049.2:p.Ile745=
XM_011537067.2:c.2184T>C	XP_011535369.1:p.Ile728=
XM_011537069.2:c.2232T>C	XP_011535371.2:p.Ile744=
XM_011537070.2:c.2088T>C	XP_011535372.1:p.Ile696=
XM_011537071.2:c.2142T>C	XP_011535373.2:p.Ile714=
XM_011537072.2:c.2034T>C	XP_011535374.1:p.Ile678=
XM_017021582.1:c.2292T>C	XP_016877071.1:p.Ile764=
XM_017021583.1:c.2283T>C	XP_016877072.1:p.Ile761=
XM_017021584.1:c.2202T>C	XP_016877073.1:p.Ile734=
XM_017021585.1:c.2151T>C	XP_016877074.1:p.Ile717=
XM_017021586.1:c.1827T>C	XP_016877075.1:p.Ile609=
XM_017021587.1:c.1827T>C	XP_016877076.1:p.Ile609=
XM_017021588.1:c.1827T>C	XP_016877077.1:p.Ile609=
NM_001164749.2:c.2133T>C MANE Select	NP_001158221.1:p.Ile711=
NM_001165893.2:c.2043T>C	NP_001159365.1:p.Ile681=
NM_022123.3:c.2037T>C	NP_071406.1:p.Ile679=
NM_173159.3:c.2094T>C	NP_775182.1:p.Ile698=
NM_001394988.1:c.2088T>C	NP_001381917.1:p.Ile696=
NM_001394989.1:c.2034T>C	NP_001381918.1:p.Ile678=