Canonical Allele Identifier: CA389412812

Gene: NPAS3

Linked Data

• gnomAD v4: 14-33800157-T-A
• MyVariant Identifiers: chr14:g.34269363T>A (hg19) ; chr14:g.33800157T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800157T>A , CM000676.2:g.33800157T>A	GRCh38
NC_000014.8:g.34269363T>A , CM000676.1:g.34269363T>A	GRCh37
NC_000014.7:g.33339114T>A	NCBI36
NG_013036.1:g.865905T>A
NG_013036.2:g.865905T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1850T>A MANE Select	ENSP00000348460.4:p.Leu617Gln
ENST00000551634.6:c.1859T>A	ENSP00000448373.2:p.Leu620Gln
ENST00000680362.1:c.1750T>A
ENST00000681323.1:c.793+2576T>A
ENST00000346562.6:c.1754T>A	ENSP00000319610.5:p.Leu585Gln
ENST00000356141.8:c.1850T>A	ENSP00000348460.4:p.Leu617Gln
ENST00000357798.9:c.1811T>A	ENSP00000350446.5:p.Leu604Gln
ENST00000548645.5:c.1760T>A	ENSP00000448916.1:p.Leu587Gln
ENST00000551492.5:c.1865T>A	ENSP00000450392.1:p.Leu622Gln
ENST00000551634.5:c.1772T>A	ENSP00000448373.1:p.Leu591Gln
NM_001164749.1:c.1850T>A	NP_001158221.1:p.Leu617Gln
NM_001165893.1:c.1760T>A	NP_001159365.1:p.Leu587Gln
NM_022123.2:c.1754T>A	NP_071406.1:p.Leu585Gln
NM_173159.2:c.1811T>A	NP_775182.1:p.Leu604Gln
XM_005267991.2:c.1871T>A	XP_005268048.1:p.Leu624Gln
XM_005267992.2:c.1865T>A	XP_005268049.1:p.Leu622Gln
XM_005267993.2:c.1811T>A	XP_005268050.1:p.Leu604Gln
XM_011537067.1:c.1901T>A	XP_011535369.1:p.Leu634Gln
XM_011537068.1:c.1892T>A	XP_011535370.1:p.Leu631Gln
XM_011537069.1:c.1862T>A	XP_011535371.1:p.Leu621Gln
XM_011537070.1:c.1805T>A	XP_011535372.1:p.Leu602Gln
XM_011537071.1:c.1772T>A	XP_011535373.1:p.Leu591Gln
XM_011537072.1:c.1751T>A	XP_011535374.1:p.Leu584Gln
XM_011537073.1:c.1544T>A	XP_011535375.1:p.Leu515Gln
XM_011537074.1:c.1544T>A	XP_011535376.1:p.Leu515Gln
XM_005267991.3:c.1958T>A	XP_005268048.2:p.Leu653Gln
XM_005267992.3:c.1952T>A	XP_005268049.2:p.Leu651Gln
XM_011537067.2:c.1901T>A	XP_011535369.1:p.Leu634Gln
XM_011537069.2:c.1949T>A	XP_011535371.2:p.Leu650Gln
XM_011537070.2:c.1805T>A	XP_011535372.1:p.Leu602Gln
XM_011537071.2:c.1859T>A	XP_011535373.2:p.Leu620Gln
XM_011537072.2:c.1751T>A	XP_011535374.1:p.Leu584Gln
XM_017021582.1:c.2009T>A	XP_016877071.1:p.Leu670Gln
XM_017021583.1:c.2000T>A	XP_016877072.1:p.Leu667Gln
XM_017021584.1:c.1919T>A	XP_016877073.1:p.Leu640Gln
XM_017021585.1:c.1868T>A	XP_016877074.1:p.Leu623Gln
XM_017021586.1:c.1544T>A	XP_016877075.1:p.Leu515Gln
XM_017021587.1:c.1544T>A	XP_016877076.1:p.Leu515Gln
XM_017021588.1:c.1544T>A	XP_016877077.1:p.Leu515Gln
NM_001164749.2:c.1850T>A MANE Select	NP_001158221.1:p.Leu617Gln
NM_001165893.2:c.1760T>A	NP_001159365.1:p.Leu587Gln
NM_022123.3:c.1754T>A	NP_071406.1:p.Leu585Gln
NM_173159.3:c.1811T>A	NP_775182.1:p.Leu604Gln
NM_001394988.1:c.1805T>A	NP_001381917.1:p.Leu602Gln
NM_001394989.1:c.1751T>A	NP_001381918.1:p.Leu584Gln