Canonical Allele Identifier: CA389412805

Gene: NPAS3

Linked Data

• gnomAD v4: 14-33800156-C-A
• MyVariant Identifiers: chr14:g.34269362C>A (hg19) ; chr14:g.33800156C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800156C>A , CM000676.2:g.33800156C>A	GRCh38
NC_000014.8:g.34269362C>A , CM000676.1:g.34269362C>A	GRCh37
NC_000014.7:g.33339113C>A	NCBI36
NG_013036.1:g.865904C>A
NG_013036.2:g.865904C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1849C>A MANE Select	ENSP00000348460.4:p.Leu617Met
ENST00000551634.6:c.1858C>A	ENSP00000448373.2:p.Leu620Met
ENST00000680362.1:c.1749C>A
ENST00000681323.1:c.793+2575C>A
ENST00000346562.6:c.1753C>A	ENSP00000319610.5:p.Leu585Met
ENST00000356141.8:c.1849C>A	ENSP00000348460.4:p.Leu617Met
ENST00000357798.9:c.1810C>A	ENSP00000350446.5:p.Leu604Met
ENST00000548645.5:c.1759C>A	ENSP00000448916.1:p.Leu587Met
ENST00000551492.5:c.1864C>A	ENSP00000450392.1:p.Leu622Met
ENST00000551634.5:c.1771C>A	ENSP00000448373.1:p.Leu591Met
NM_001164749.1:c.1849C>A	NP_001158221.1:p.Leu617Met
NM_001165893.1:c.1759C>A	NP_001159365.1:p.Leu587Met
NM_022123.2:c.1753C>A	NP_071406.1:p.Leu585Met
NM_173159.2:c.1810C>A	NP_775182.1:p.Leu604Met
XM_005267991.2:c.1870C>A	XP_005268048.1:p.Leu624Met
XM_005267992.2:c.1864C>A	XP_005268049.1:p.Leu622Met
XM_005267993.2:c.1810C>A	XP_005268050.1:p.Leu604Met
XM_011537067.1:c.1900C>A	XP_011535369.1:p.Leu634Met
XM_011537068.1:c.1891C>A	XP_011535370.1:p.Leu631Met
XM_011537069.1:c.1861C>A	XP_011535371.1:p.Leu621Met
XM_011537070.1:c.1804C>A	XP_011535372.1:p.Leu602Met
XM_011537071.1:c.1771C>A	XP_011535373.1:p.Leu591Met
XM_011537072.1:c.1750C>A	XP_011535374.1:p.Leu584Met
XM_011537073.1:c.1543C>A	XP_011535375.1:p.Leu515Met
XM_011537074.1:c.1543C>A	XP_011535376.1:p.Leu515Met
XM_005267991.3:c.1957C>A	XP_005268048.2:p.Leu653Met
XM_005267992.3:c.1951C>A	XP_005268049.2:p.Leu651Met
XM_011537067.2:c.1900C>A	XP_011535369.1:p.Leu634Met
XM_011537069.2:c.1948C>A	XP_011535371.2:p.Leu650Met
XM_011537070.2:c.1804C>A	XP_011535372.1:p.Leu602Met
XM_011537071.2:c.1858C>A	XP_011535373.2:p.Leu620Met
XM_011537072.2:c.1750C>A	XP_011535374.1:p.Leu584Met
XM_017021582.1:c.2008C>A	XP_016877071.1:p.Leu670Met
XM_017021583.1:c.1999C>A	XP_016877072.1:p.Leu667Met
XM_017021584.1:c.1918C>A	XP_016877073.1:p.Leu640Met
XM_017021585.1:c.1867C>A	XP_016877074.1:p.Leu623Met
XM_017021586.1:c.1543C>A	XP_016877075.1:p.Leu515Met
XM_017021587.1:c.1543C>A	XP_016877076.1:p.Leu515Met
XM_017021588.1:c.1543C>A	XP_016877077.1:p.Leu515Met
NM_001164749.2:c.1849C>A MANE Select	NP_001158221.1:p.Leu617Met
NM_001165893.2:c.1759C>A	NP_001159365.1:p.Leu587Met
NM_022123.3:c.1753C>A	NP_071406.1:p.Leu585Met
NM_173159.3:c.1810C>A	NP_775182.1:p.Leu604Met
NM_001394988.1:c.1804C>A	NP_001381917.1:p.Leu602Met
NM_001394989.1:c.1750C>A	NP_001381918.1:p.Leu584Met