Canonical Allele Identifier: CA389412618

Gene: NPAS3

Linked Data

• MyVariant Identifiers: chr14:g.34269333A>C (hg19) ; chr14:g.33800127A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800127A>C , CM000676.2:g.33800127A>C	GRCh38
NC_000014.8:g.34269333A>C , CM000676.1:g.34269333A>C	GRCh37
NC_000014.7:g.33339084A>C	NCBI36
NG_013036.1:g.865875A>C
NG_013036.2:g.865875A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1820A>C MANE Select	ENSP00000348460.4:p.Gln607Pro
ENST00000551634.6:c.1829A>C	ENSP00000448373.2:p.Gln610Pro
ENST00000680362.1:c.1720A>C
ENST00000681323.1:c.793+2546A>C
ENST00000346562.6:c.1724A>C	ENSP00000319610.5:p.Gln575Pro
ENST00000356141.8:c.1820A>C	ENSP00000348460.4:p.Gln607Pro
ENST00000357798.9:c.1781A>C	ENSP00000350446.5:p.Gln594Pro
ENST00000548645.5:c.1730A>C	ENSP00000448916.1:p.Gln577Pro
ENST00000551492.5:c.1835A>C	ENSP00000450392.1:p.Gln612Pro
ENST00000551634.5:c.1742A>C	ENSP00000448373.1:p.Gln581Pro
NM_001164749.1:c.1820A>C	NP_001158221.1:p.Gln607Pro
NM_001165893.1:c.1730A>C	NP_001159365.1:p.Gln577Pro
NM_022123.2:c.1724A>C	NP_071406.1:p.Gln575Pro
NM_173159.2:c.1781A>C	NP_775182.1:p.Gln594Pro
XM_005267991.2:c.1841A>C	XP_005268048.1:p.Gln614Pro
XM_005267992.2:c.1835A>C	XP_005268049.1:p.Gln612Pro
XM_005267993.2:c.1781A>C	XP_005268050.1:p.Gln594Pro
XM_011537067.1:c.1871A>C	XP_011535369.1:p.Gln624Pro
XM_011537068.1:c.1862A>C	XP_011535370.1:p.Gln621Pro
XM_011537069.1:c.1832A>C	XP_011535371.1:p.Gln611Pro
XM_011537070.1:c.1775A>C	XP_011535372.1:p.Gln592Pro
XM_011537071.1:c.1742A>C	XP_011535373.1:p.Gln581Pro
XM_011537072.1:c.1721A>C	XP_011535374.1:p.Gln574Pro
XM_011537073.1:c.1514A>C	XP_011535375.1:p.Gln505Pro
XM_011537074.1:c.1514A>C	XP_011535376.1:p.Gln505Pro
XM_005267991.3:c.1928A>C	XP_005268048.2:p.Gln643Pro
XM_005267992.3:c.1922A>C	XP_005268049.2:p.Gln641Pro
XM_011537067.2:c.1871A>C	XP_011535369.1:p.Gln624Pro
XM_011537069.2:c.1919A>C	XP_011535371.2:p.Gln640Pro
XM_011537070.2:c.1775A>C	XP_011535372.1:p.Gln592Pro
XM_011537071.2:c.1829A>C	XP_011535373.2:p.Gln610Pro
XM_011537072.2:c.1721A>C	XP_011535374.1:p.Gln574Pro
XM_017021582.1:c.1979A>C	XP_016877071.1:p.Gln660Pro
XM_017021583.1:c.1970A>C	XP_016877072.1:p.Gln657Pro
XM_017021584.1:c.1889A>C	XP_016877073.1:p.Gln630Pro
XM_017021585.1:c.1838A>C	XP_016877074.1:p.Gln613Pro
XM_017021586.1:c.1514A>C	XP_016877075.1:p.Gln505Pro
XM_017021587.1:c.1514A>C	XP_016877076.1:p.Gln505Pro
XM_017021588.1:c.1514A>C	XP_016877077.1:p.Gln505Pro
NM_001164749.2:c.1820A>C MANE Select	NP_001158221.1:p.Gln607Pro
NM_001165893.2:c.1730A>C	NP_001159365.1:p.Gln577Pro
NM_022123.3:c.1724A>C	NP_071406.1:p.Gln575Pro
NM_173159.3:c.1781A>C	NP_775182.1:p.Gln594Pro
NM_001394988.1:c.1775A>C	NP_001381917.1:p.Gln592Pro
NM_001394989.1:c.1721A>C	NP_001381918.1:p.Gln574Pro