Canonical Allele Identifier: CA389413064

Gene: NPAS3

Linked Data

• gnomAD v4: 14-33800217-T-A
• MyVariant Identifiers: chr14:g.34269423T>A (hg19) ; chr14:g.33800217T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800217T>A , CM000676.2:g.33800217T>A	GRCh38
NC_000014.8:g.34269423T>A , CM000676.1:g.34269423T>A	GRCh37
NC_000014.7:g.33339174T>A	NCBI36
NG_013036.1:g.865965T>A
NG_013036.2:g.865965T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1910T>A MANE Select	ENSP00000348460.4:p.Leu637Gln
ENST00000551634.6:c.1919T>A	ENSP00000448373.2:p.Leu640Gln
ENST00000680362.1:c.1810T>A
ENST00000681323.1:c.793+2636T>A
ENST00000346562.6:c.1814T>A	ENSP00000319610.5:p.Leu605Gln
ENST00000356141.8:c.1910T>A	ENSP00000348460.4:p.Leu637Gln
ENST00000357798.9:c.1871T>A	ENSP00000350446.5:p.Leu624Gln
ENST00000548645.5:c.1820T>A	ENSP00000448916.1:p.Leu607Gln
ENST00000551492.5:c.1925T>A	ENSP00000450392.1:p.Leu642Gln
ENST00000551634.5:c.1832T>A	ENSP00000448373.1:p.Leu611Gln
NM_001164749.1:c.1910T>A	NP_001158221.1:p.Leu637Gln
NM_001165893.1:c.1820T>A	NP_001159365.1:p.Leu607Gln
NM_022123.2:c.1814T>A	NP_071406.1:p.Leu605Gln
NM_173159.2:c.1871T>A	NP_775182.1:p.Leu624Gln
XM_005267991.2:c.1931T>A	XP_005268048.1:p.Leu644Gln
XM_005267992.2:c.1925T>A	XP_005268049.1:p.Leu642Gln
XM_005267993.2:c.1871T>A	XP_005268050.1:p.Leu624Gln
XM_011537067.1:c.1961T>A	XP_011535369.1:p.Leu654Gln
XM_011537068.1:c.1952T>A	XP_011535370.1:p.Leu651Gln
XM_011537069.1:c.1922T>A	XP_011535371.1:p.Leu641Gln
XM_011537070.1:c.1865T>A	XP_011535372.1:p.Leu622Gln
XM_011537071.1:c.1832T>A	XP_011535373.1:p.Leu611Gln
XM_011537072.1:c.1811T>A	XP_011535374.1:p.Leu604Gln
XM_011537073.1:c.1604T>A	XP_011535375.1:p.Leu535Gln
XM_011537074.1:c.1604T>A	XP_011535376.1:p.Leu535Gln
XM_005267991.3:c.2018T>A	XP_005268048.2:p.Leu673Gln
XM_005267992.3:c.2012T>A	XP_005268049.2:p.Leu671Gln
XM_011537067.2:c.1961T>A	XP_011535369.1:p.Leu654Gln
XM_011537069.2:c.2009T>A	XP_011535371.2:p.Leu670Gln
XM_011537070.2:c.1865T>A	XP_011535372.1:p.Leu622Gln
XM_011537071.2:c.1919T>A	XP_011535373.2:p.Leu640Gln
XM_011537072.2:c.1811T>A	XP_011535374.1:p.Leu604Gln
XM_017021582.1:c.2069T>A	XP_016877071.1:p.Leu690Gln
XM_017021583.1:c.2060T>A	XP_016877072.1:p.Leu687Gln
XM_017021584.1:c.1979T>A	XP_016877073.1:p.Leu660Gln
XM_017021585.1:c.1928T>A	XP_016877074.1:p.Leu643Gln
XM_017021586.1:c.1604T>A	XP_016877075.1:p.Leu535Gln
XM_017021587.1:c.1604T>A	XP_016877076.1:p.Leu535Gln
XM_017021588.1:c.1604T>A	XP_016877077.1:p.Leu535Gln
NM_001164749.2:c.1910T>A MANE Select	NP_001158221.1:p.Leu637Gln
NM_001165893.2:c.1820T>A	NP_001159365.1:p.Leu607Gln
NM_022123.3:c.1814T>A	NP_071406.1:p.Leu605Gln
NM_173159.3:c.1871T>A	NP_775182.1:p.Leu624Gln
NM_001394988.1:c.1865T>A	NP_001381917.1:p.Leu622Gln
NM_001394989.1:c.1811T>A	NP_001381918.1:p.Leu604Gln