Canonical Allele Identifier: CA389413270

Gene: NPAS3

Linked Data

• MyVariant Identifiers: chr14:g.34269473G>C (hg19) ; chr14:g.33800267G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800267G>C , CM000676.2:g.33800267G>C	GRCh38
NC_000014.8:g.34269473G>C , CM000676.1:g.34269473G>C	GRCh37
NC_000014.7:g.33339224G>C	NCBI36
NG_013036.1:g.866015G>C
NG_013036.2:g.866015G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1960G>C MANE Select	ENSP00000348460.4:p.Glu654Gln
ENST00000551634.6:c.1969G>C	ENSP00000448373.2:p.Glu657Gln
ENST00000680362.1:c.1860G>C
ENST00000681323.1:c.793+2686G>C
ENST00000346562.6:c.1864G>C	ENSP00000319610.5:p.Glu622Gln
ENST00000356141.8:c.1960G>C	ENSP00000348460.4:p.Glu654Gln
ENST00000357798.9:c.1921G>C	ENSP00000350446.5:p.Glu641Gln
ENST00000548645.5:c.1870G>C	ENSP00000448916.1:p.Glu624Gln
ENST00000551492.5:c.1975G>C	ENSP00000450392.1:p.Glu659Gln
ENST00000551634.5:c.1882G>C	ENSP00000448373.1:p.Glu628Gln
NM_001164749.1:c.1960G>C	NP_001158221.1:p.Glu654Gln
NM_001165893.1:c.1870G>C	NP_001159365.1:p.Glu624Gln
NM_022123.2:c.1864G>C	NP_071406.1:p.Glu622Gln
NM_173159.2:c.1921G>C	NP_775182.1:p.Glu641Gln
XM_005267991.2:c.1981G>C	XP_005268048.1:p.Glu661Gln
XM_005267992.2:c.1975G>C	XP_005268049.1:p.Glu659Gln
XM_005267993.2:c.1921G>C	XP_005268050.1:p.Glu641Gln
XM_011537067.1:c.2011G>C	XP_011535369.1:p.Glu671Gln
XM_011537068.1:c.2002G>C	XP_011535370.1:p.Glu668Gln
XM_011537069.1:c.1972G>C	XP_011535371.1:p.Glu658Gln
XM_011537070.1:c.1915G>C	XP_011535372.1:p.Glu639Gln
XM_011537071.1:c.1882G>C	XP_011535373.1:p.Glu628Gln
XM_011537072.1:c.1861G>C	XP_011535374.1:p.Glu621Gln
XM_011537073.1:c.1654G>C	XP_011535375.1:p.Glu552Gln
XM_011537074.1:c.1654G>C	XP_011535376.1:p.Glu552Gln
XM_005267991.3:c.2068G>C	XP_005268048.2:p.Glu690Gln
XM_005267992.3:c.2062G>C	XP_005268049.2:p.Glu688Gln
XM_011537067.2:c.2011G>C	XP_011535369.1:p.Glu671Gln
XM_011537069.2:c.2059G>C	XP_011535371.2:p.Glu687Gln
XM_011537070.2:c.1915G>C	XP_011535372.1:p.Glu639Gln
XM_011537071.2:c.1969G>C	XP_011535373.2:p.Glu657Gln
XM_011537072.2:c.1861G>C	XP_011535374.1:p.Glu621Gln
XM_017021582.1:c.2119G>C	XP_016877071.1:p.Glu707Gln
XM_017021583.1:c.2110G>C	XP_016877072.1:p.Glu704Gln
XM_017021584.1:c.2029G>C	XP_016877073.1:p.Glu677Gln
XM_017021585.1:c.1978G>C	XP_016877074.1:p.Glu660Gln
XM_017021586.1:c.1654G>C	XP_016877075.1:p.Glu552Gln
XM_017021587.1:c.1654G>C	XP_016877076.1:p.Glu552Gln
XM_017021588.1:c.1654G>C	XP_016877077.1:p.Glu552Gln
NM_001164749.2:c.1960G>C MANE Select	NP_001158221.1:p.Glu654Gln
NM_001165893.2:c.1870G>C	NP_001159365.1:p.Glu624Gln
NM_022123.3:c.1864G>C	NP_071406.1:p.Glu622Gln
NM_173159.3:c.1921G>C	NP_775182.1:p.Glu641Gln
NM_001394988.1:c.1915G>C	NP_001381917.1:p.Glu639Gln
NM_001394989.1:c.1861G>C	NP_001381918.1:p.Glu621Gln