Canonical Allele Identifier: CA389413987

Gene: NPAS3

Linked Data

• MyVariant Identifiers: chr14:g.34269633T>G (hg19) ; chr14:g.33800427T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800427T>G , CM000676.2:g.33800427T>G	GRCh38
NC_000014.8:g.34269633T>G , CM000676.1:g.34269633T>G	GRCh37
NC_000014.7:g.33339384T>G	NCBI36
NG_013036.1:g.866175T>G
NG_013036.2:g.866175T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.2120T>G MANE Select	ENSP00000348460.4:p.Leu707Arg
ENST00000551634.6:c.2129T>G	ENSP00000448373.2:p.Leu710Arg
ENST00000680362.1:c.2020T>G
ENST00000681323.1:c.793+2846T>G
ENST00000346562.6:c.2024T>G	ENSP00000319610.5:p.Leu675Arg
ENST00000356141.8:c.2120T>G	ENSP00000348460.4:p.Leu707Arg
ENST00000357798.9:c.2081T>G	ENSP00000350446.5:p.Leu694Arg
ENST00000548645.5:c.2030T>G	ENSP00000448916.1:p.Leu677Arg
ENST00000551492.5:c.2135T>G	ENSP00000450392.1:p.Leu712Arg
ENST00000551634.5:c.2042T>G	ENSP00000448373.1:p.Leu681Arg
NM_001164749.1:c.2120T>G	NP_001158221.1:p.Leu707Arg
NM_001165893.1:c.2030T>G	NP_001159365.1:p.Leu677Arg
NM_022123.2:c.2024T>G	NP_071406.1:p.Leu675Arg
NM_173159.2:c.2081T>G	NP_775182.1:p.Leu694Arg
XM_005267991.2:c.2141T>G	XP_005268048.1:p.Leu714Arg
XM_005267992.2:c.2135T>G	XP_005268049.1:p.Leu712Arg
XM_005267993.2:c.2081T>G	XP_005268050.1:p.Leu694Arg
XM_011537067.1:c.2171T>G	XP_011535369.1:p.Leu724Arg
XM_011537068.1:c.2162T>G	XP_011535370.1:p.Leu721Arg
XM_011537069.1:c.2132T>G	XP_011535371.1:p.Leu711Arg
XM_011537070.1:c.2075T>G	XP_011535372.1:p.Leu692Arg
XM_011537071.1:c.2042T>G	XP_011535373.1:p.Leu681Arg
XM_011537072.1:c.2021T>G	XP_011535374.1:p.Leu674Arg
XM_011537073.1:c.1814T>G	XP_011535375.1:p.Leu605Arg
XM_011537074.1:c.1814T>G	XP_011535376.1:p.Leu605Arg
XM_005267991.3:c.2228T>G	XP_005268048.2:p.Leu743Arg
XM_005267992.3:c.2222T>G	XP_005268049.2:p.Leu741Arg
XM_011537067.2:c.2171T>G	XP_011535369.1:p.Leu724Arg
XM_011537069.2:c.2219T>G	XP_011535371.2:p.Leu740Arg
XM_011537070.2:c.2075T>G	XP_011535372.1:p.Leu692Arg
XM_011537071.2:c.2129T>G	XP_011535373.2:p.Leu710Arg
XM_011537072.2:c.2021T>G	XP_011535374.1:p.Leu674Arg
XM_017021582.1:c.2279T>G	XP_016877071.1:p.Leu760Arg
XM_017021583.1:c.2270T>G	XP_016877072.1:p.Leu757Arg
XM_017021584.1:c.2189T>G	XP_016877073.1:p.Leu730Arg
XM_017021585.1:c.2138T>G	XP_016877074.1:p.Leu713Arg
XM_017021586.1:c.1814T>G	XP_016877075.1:p.Leu605Arg
XM_017021587.1:c.1814T>G	XP_016877076.1:p.Leu605Arg
XM_017021588.1:c.1814T>G	XP_016877077.1:p.Leu605Arg
NM_001164749.2:c.2120T>G MANE Select	NP_001158221.1:p.Leu707Arg
NM_001165893.2:c.2030T>G	NP_001159365.1:p.Leu677Arg
NM_022123.3:c.2024T>G	NP_071406.1:p.Leu675Arg
NM_173159.3:c.2081T>G	NP_775182.1:p.Leu694Arg
NM_001394988.1:c.2075T>G	NP_001381917.1:p.Leu692Arg
NM_001394989.1:c.2021T>G	NP_001381918.1:p.Leu674Arg