Canonical Allele Identifier: CA389412484

Gene: NPAS3

Linked Data

• dbSNP Id: rs1421750160
• gnomAD v2: 14-34269312-G-A
• gnomAD v4: 14-33800106-G-A
• MyVariant Identifiers: chr14:g.34269312G>A (hg19) ; chr14:g.33800106G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800106G>A , CM000676.2:g.33800106G>A	GRCh38
NC_000014.8:g.34269312G>A , CM000676.1:g.34269312G>A	GRCh37
NC_000014.7:g.33339063G>A	NCBI36
NG_013036.1:g.865854G>A
NG_013036.2:g.865854G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1799G>A MANE Select	ENSP00000348460.4:p.Arg600His
ENST00000551634.6:c.1808G>A	ENSP00000448373.2:p.Arg603His
ENST00000680362.1:c.1699G>A
ENST00000681323.1:c.793+2525G>A
ENST00000346562.6:c.1703G>A	ENSP00000319610.5:p.Arg568His
ENST00000356141.8:c.1799G>A	ENSP00000348460.4:p.Arg600His
ENST00000357798.9:c.1760G>A	ENSP00000350446.5:p.Arg587His
ENST00000548645.5:c.1709G>A	ENSP00000448916.1:p.Arg570His
ENST00000551492.5:c.1814G>A	ENSP00000450392.1:p.Arg605His
ENST00000551634.5:c.1721G>A	ENSP00000448373.1:p.Arg574His
NM_001164749.1:c.1799G>A	NP_001158221.1:p.Arg600His
NM_001165893.1:c.1709G>A	NP_001159365.1:p.Arg570His
NM_022123.2:c.1703G>A	NP_071406.1:p.Arg568His
NM_173159.2:c.1760G>A	NP_775182.1:p.Arg587His
XM_005267991.2:c.1820G>A	XP_005268048.1:p.Arg607His
XM_005267992.2:c.1814G>A	XP_005268049.1:p.Arg605His
XM_005267993.2:c.1760G>A	XP_005268050.1:p.Arg587His
XM_011537067.1:c.1850G>A	XP_011535369.1:p.Arg617His
XM_011537068.1:c.1841G>A	XP_011535370.1:p.Arg614His
XM_011537069.1:c.1811G>A	XP_011535371.1:p.Arg604His
XM_011537070.1:c.1754G>A	XP_011535372.1:p.Arg585His
XM_011537071.1:c.1721G>A	XP_011535373.1:p.Arg574His
XM_011537072.1:c.1700G>A	XP_011535374.1:p.Arg567His
XM_011537073.1:c.1493G>A	XP_011535375.1:p.Arg498His
XM_011537074.1:c.1493G>A	XP_011535376.1:p.Arg498His
XM_005267991.3:c.1907G>A	XP_005268048.2:p.Arg636His
XM_005267992.3:c.1901G>A	XP_005268049.2:p.Arg634His
XM_011537067.2:c.1850G>A	XP_011535369.1:p.Arg617His
XM_011537069.2:c.1898G>A	XP_011535371.2:p.Arg633His
XM_011537070.2:c.1754G>A	XP_011535372.1:p.Arg585His
XM_011537071.2:c.1808G>A	XP_011535373.2:p.Arg603His
XM_011537072.2:c.1700G>A	XP_011535374.1:p.Arg567His
XM_017021582.1:c.1958G>A	XP_016877071.1:p.Arg653His
XM_017021583.1:c.1949G>A	XP_016877072.1:p.Arg650His
XM_017021584.1:c.1868G>A	XP_016877073.1:p.Arg623His
XM_017021585.1:c.1817G>A	XP_016877074.1:p.Arg606His
XM_017021586.1:c.1493G>A	XP_016877075.1:p.Arg498His
XM_017021587.1:c.1493G>A	XP_016877076.1:p.Arg498His
XM_017021588.1:c.1493G>A	XP_016877077.1:p.Arg498His
NM_001164749.2:c.1799G>A MANE Select	NP_001158221.1:p.Arg600His
NM_001165893.2:c.1709G>A	NP_001159365.1:p.Arg570His
NM_022123.3:c.1703G>A	NP_071406.1:p.Arg568His
NM_173159.3:c.1760G>A	NP_775182.1:p.Arg587His
NM_001394988.1:c.1754G>A	NP_001381917.1:p.Arg585His
NM_001394989.1:c.1700G>A	NP_001381918.1:p.Arg567His