Canonical Allele Identifier: CA389413485

Gene: NPAS3

Linked Data

• MyVariant Identifiers: chr14:g.34269518C>G (hg19) ; chr14:g.33800312C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800312C>G , CM000676.2:g.33800312C>G	GRCh38
NC_000014.8:g.34269518C>G , CM000676.1:g.34269518C>G	GRCh37
NC_000014.7:g.33339269C>G	NCBI36
NG_013036.1:g.866060C>G
NG_013036.2:g.866060C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.2005C>G MANE Select	ENSP00000348460.4:p.Pro669Ala
ENST00000551634.6:c.2014C>G	ENSP00000448373.2:p.Pro672Ala
ENST00000680362.1:c.1905C>G
ENST00000681323.1:c.793+2731C>G
ENST00000346562.6:c.1909C>G	ENSP00000319610.5:p.Pro637Ala
ENST00000356141.8:c.2005C>G	ENSP00000348460.4:p.Pro669Ala
ENST00000357798.9:c.1966C>G	ENSP00000350446.5:p.Pro656Ala
ENST00000548645.5:c.1915C>G	ENSP00000448916.1:p.Pro639Ala
ENST00000551492.5:c.2020C>G	ENSP00000450392.1:p.Pro674Ala
ENST00000551634.5:c.1927C>G	ENSP00000448373.1:p.Pro643Ala
NM_001164749.1:c.2005C>G	NP_001158221.1:p.Pro669Ala
NM_001165893.1:c.1915C>G	NP_001159365.1:p.Pro639Ala
NM_022123.2:c.1909C>G	NP_071406.1:p.Pro637Ala
NM_173159.2:c.1966C>G	NP_775182.1:p.Pro656Ala
XM_005267991.2:c.2026C>G	XP_005268048.1:p.Pro676Ala
XM_005267992.2:c.2020C>G	XP_005268049.1:p.Pro674Ala
XM_005267993.2:c.1966C>G	XP_005268050.1:p.Pro656Ala
XM_011537067.1:c.2056C>G	XP_011535369.1:p.Pro686Ala
XM_011537068.1:c.2047C>G	XP_011535370.1:p.Pro683Ala
XM_011537069.1:c.2017C>G	XP_011535371.1:p.Pro673Ala
XM_011537070.1:c.1960C>G	XP_011535372.1:p.Pro654Ala
XM_011537071.1:c.1927C>G	XP_011535373.1:p.Pro643Ala
XM_011537072.1:c.1906C>G	XP_011535374.1:p.Pro636Ala
XM_011537073.1:c.1699C>G	XP_011535375.1:p.Pro567Ala
XM_011537074.1:c.1699C>G	XP_011535376.1:p.Pro567Ala
XM_005267991.3:c.2113C>G	XP_005268048.2:p.Pro705Ala
XM_005267992.3:c.2107C>G	XP_005268049.2:p.Pro703Ala
XM_011537067.2:c.2056C>G	XP_011535369.1:p.Pro686Ala
XM_011537069.2:c.2104C>G	XP_011535371.2:p.Pro702Ala
XM_011537070.2:c.1960C>G	XP_011535372.1:p.Pro654Ala
XM_011537071.2:c.2014C>G	XP_011535373.2:p.Pro672Ala
XM_011537072.2:c.1906C>G	XP_011535374.1:p.Pro636Ala
XM_017021582.1:c.2164C>G	XP_016877071.1:p.Pro722Ala
XM_017021583.1:c.2155C>G	XP_016877072.1:p.Pro719Ala
XM_017021584.1:c.2074C>G	XP_016877073.1:p.Pro692Ala
XM_017021585.1:c.2023C>G	XP_016877074.1:p.Pro675Ala
XM_017021586.1:c.1699C>G	XP_016877075.1:p.Pro567Ala
XM_017021587.1:c.1699C>G	XP_016877076.1:p.Pro567Ala
XM_017021588.1:c.1699C>G	XP_016877077.1:p.Pro567Ala
NM_001164749.2:c.2005C>G MANE Select	NP_001158221.1:p.Pro669Ala
NM_001165893.2:c.1915C>G	NP_001159365.1:p.Pro639Ala
NM_022123.3:c.1909C>G	NP_071406.1:p.Pro637Ala
NM_173159.3:c.1966C>G	NP_775182.1:p.Pro656Ala
NM_001394988.1:c.1960C>G	NP_001381917.1:p.Pro654Ala
NM_001394989.1:c.1906C>G	NP_001381918.1:p.Pro636Ala