Canonical Allele Identifier: CA7150881

Gene: NPAS3

Linked Data

• dbSNP Id: rs773390839
• ExAC: 14:34269326 A / G
• gnomAD v2: 14-34269326-A-G
• MyVariant Identifiers: chr14:g.34269326A>G (hg19) ; chr14:g.33800120A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800120A>G , CM000676.2:g.33800120A>G	GRCh38
NC_000014.8:g.34269326A>G , CM000676.1:g.34269326A>G	GRCh37
NC_000014.7:g.33339077A>G	NCBI36
NG_013036.1:g.865868A>G
NG_013036.2:g.865868A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1813A>G MANE Select	ENSP00000348460.4:p.Lys605Glu
ENST00000551634.6:c.1822A>G	ENSP00000448373.2:p.Lys608Glu
ENST00000680362.1:c.1713A>G
ENST00000681323.1:c.793+2539A>G
ENST00000346562.6:c.1717A>G	ENSP00000319610.5:p.Lys573Glu
ENST00000356141.8:c.1813A>G	ENSP00000348460.4:p.Lys605Glu
ENST00000357798.9:c.1774A>G	ENSP00000350446.5:p.Lys592Glu
ENST00000548645.5:c.1723A>G	ENSP00000448916.1:p.Lys575Glu
ENST00000551492.5:c.1828A>G	ENSP00000450392.1:p.Lys610Glu
ENST00000551634.5:c.1735A>G	ENSP00000448373.1:p.Lys579Glu
NM_001164749.1:c.1813A>G	NP_001158221.1:p.Lys605Glu
NM_001165893.1:c.1723A>G	NP_001159365.1:p.Lys575Glu
NM_022123.2:c.1717A>G	NP_071406.1:p.Lys573Glu
NM_173159.2:c.1774A>G	NP_775182.1:p.Lys592Glu
XM_005267991.2:c.1834A>G	XP_005268048.1:p.Lys612Glu
XM_005267992.2:c.1828A>G	XP_005268049.1:p.Lys610Glu
XM_005267993.2:c.1774A>G	XP_005268050.1:p.Lys592Glu
XM_011537067.1:c.1864A>G	XP_011535369.1:p.Lys622Glu
XM_011537068.1:c.1855A>G	XP_011535370.1:p.Lys619Glu
XM_011537069.1:c.1825A>G	XP_011535371.1:p.Lys609Glu
XM_011537070.1:c.1768A>G	XP_011535372.1:p.Lys590Glu
XM_011537071.1:c.1735A>G	XP_011535373.1:p.Lys579Glu
XM_011537072.1:c.1714A>G	XP_011535374.1:p.Lys572Glu
XM_011537073.1:c.1507A>G	XP_011535375.1:p.Lys503Glu
XM_011537074.1:c.1507A>G	XP_011535376.1:p.Lys503Glu
XM_005267991.3:c.1921A>G	XP_005268048.2:p.Lys641Glu
XM_005267992.3:c.1915A>G	XP_005268049.2:p.Lys639Glu
XM_011537067.2:c.1864A>G	XP_011535369.1:p.Lys622Glu
XM_011537069.2:c.1912A>G	XP_011535371.2:p.Lys638Glu
XM_011537070.2:c.1768A>G	XP_011535372.1:p.Lys590Glu
XM_011537071.2:c.1822A>G	XP_011535373.2:p.Lys608Glu
XM_011537072.2:c.1714A>G	XP_011535374.1:p.Lys572Glu
XM_017021582.1:c.1972A>G	XP_016877071.1:p.Lys658Glu
XM_017021583.1:c.1963A>G	XP_016877072.1:p.Lys655Glu
XM_017021584.1:c.1882A>G	XP_016877073.1:p.Lys628Glu
XM_017021585.1:c.1831A>G	XP_016877074.1:p.Lys611Glu
XM_017021586.1:c.1507A>G	XP_016877075.1:p.Lys503Glu
XM_017021587.1:c.1507A>G	XP_016877076.1:p.Lys503Glu
XM_017021588.1:c.1507A>G	XP_016877077.1:p.Lys503Glu
NM_001164749.2:c.1813A>G MANE Select	NP_001158221.1:p.Lys605Glu
NM_001165893.2:c.1723A>G	NP_001159365.1:p.Lys575Glu
NM_022123.3:c.1717A>G	NP_071406.1:p.Lys573Glu
NM_173159.3:c.1774A>G	NP_775182.1:p.Lys592Glu
NM_001394988.1:c.1768A>G	NP_001381917.1:p.Lys590Glu
NM_001394989.1:c.1714A>G	NP_001381918.1:p.Lys572Glu