Canonical Allele Identifier: CA389412185

Gene: NPAS3

Linked Data

• MyVariant Identifiers: chr14:g.34269264A>C (hg19) ; chr14:g.33800058A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800058A>C , CM000676.2:g.33800058A>C	GRCh38
NC_000014.8:g.34269264A>C , CM000676.1:g.34269264A>C	GRCh37
NC_000014.7:g.33339015A>C	NCBI36
NG_013036.1:g.865806A>C
NG_013036.2:g.865806A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1751A>C MANE Select	ENSP00000348460.4:p.Asp584Ala
ENST00000551634.6:c.1760A>C	ENSP00000448373.2:p.Asp587Ala
ENST00000680362.1:c.1651A>C
ENST00000681323.1:c.793+2477A>C
ENST00000346562.6:c.1655A>C	ENSP00000319610.5:p.Asp552Ala
ENST00000356141.8:c.1751A>C	ENSP00000348460.4:p.Asp584Ala
ENST00000357798.9:c.1712A>C	ENSP00000350446.5:p.Asp571Ala
ENST00000548645.5:c.1661A>C	ENSP00000448916.1:p.Asp554Ala
ENST00000551492.5:c.1766A>C	ENSP00000450392.1:p.Asp589Ala
ENST00000551634.5:c.1673A>C	ENSP00000448373.1:p.Asp558Ala
NM_001164749.1:c.1751A>C	NP_001158221.1:p.Asp584Ala
NM_001165893.1:c.1661A>C	NP_001159365.1:p.Asp554Ala
NM_022123.2:c.1655A>C	NP_071406.1:p.Asp552Ala
NM_173159.2:c.1712A>C	NP_775182.1:p.Asp571Ala
XM_005267991.2:c.1772A>C	XP_005268048.1:p.Asp591Ala
XM_005267992.2:c.1766A>C	XP_005268049.1:p.Asp589Ala
XM_005267993.2:c.1712A>C	XP_005268050.1:p.Asp571Ala
XM_011537067.1:c.1802A>C	XP_011535369.1:p.Asp601Ala
XM_011537068.1:c.1793A>C	XP_011535370.1:p.Asp598Ala
XM_011537069.1:c.1763A>C	XP_011535371.1:p.Asp588Ala
XM_011537070.1:c.1706A>C	XP_011535372.1:p.Asp569Ala
XM_011537071.1:c.1673A>C	XP_011535373.1:p.Asp558Ala
XM_011537072.1:c.1652A>C	XP_011535374.1:p.Asp551Ala
XM_011537073.1:c.1445A>C	XP_011535375.1:p.Asp482Ala
XM_011537074.1:c.1445A>C	XP_011535376.1:p.Asp482Ala
XM_005267991.3:c.1859A>C	XP_005268048.2:p.Asp620Ala
XM_005267992.3:c.1853A>C	XP_005268049.2:p.Asp618Ala
XM_011537067.2:c.1802A>C	XP_011535369.1:p.Asp601Ala
XM_011537069.2:c.1850A>C	XP_011535371.2:p.Asp617Ala
XM_011537070.2:c.1706A>C	XP_011535372.1:p.Asp569Ala
XM_011537071.2:c.1760A>C	XP_011535373.2:p.Asp587Ala
XM_011537072.2:c.1652A>C	XP_011535374.1:p.Asp551Ala
XM_017021582.1:c.1910A>C	XP_016877071.1:p.Asp637Ala
XM_017021583.1:c.1901A>C	XP_016877072.1:p.Asp634Ala
XM_017021584.1:c.1820A>C	XP_016877073.1:p.Asp607Ala
XM_017021585.1:c.1769A>C	XP_016877074.1:p.Asp590Ala
XM_017021586.1:c.1445A>C	XP_016877075.1:p.Asp482Ala
XM_017021587.1:c.1445A>C	XP_016877076.1:p.Asp482Ala
XM_017021588.1:c.1445A>C	XP_016877077.1:p.Asp482Ala
NM_001164749.2:c.1751A>C MANE Select	NP_001158221.1:p.Asp584Ala
NM_001165893.2:c.1661A>C	NP_001159365.1:p.Asp554Ala
NM_022123.3:c.1655A>C	NP_071406.1:p.Asp552Ala
NM_173159.3:c.1712A>C	NP_775182.1:p.Asp571Ala
NM_001394988.1:c.1706A>C	NP_001381917.1:p.Asp569Ala
NM_001394989.1:c.1652A>C	NP_001381918.1:p.Asp551Ala