Canonical Allele Identifier: CA486092936

Gene: NPAS3

Linked Data

• dbSNP Id: rs1177702265
• gnomAD v2: 14-34269430-C-A
• MyVariant Identifiers: chr14:g.34269430C>A (hg19) ; chr14:g.33800224C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800224C>A , CM000676.2:g.33800224C>A	GRCh38
NC_000014.8:g.34269430C>A , CM000676.1:g.34269430C>A	GRCh37
NC_000014.7:g.33339181C>A	NCBI36
NG_013036.1:g.865972C>A
NG_013036.2:g.865972C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1917C>A MANE Select	ENSP00000348460.4:p.Ser639=
ENST00000551634.6:c.1926C>A	ENSP00000448373.2:p.Ser642=
ENST00000680362.1:c.1817C>A
ENST00000681323.1:c.793+2643C>A
ENST00000346562.6:c.1821C>A	ENSP00000319610.5:p.Ser607=
ENST00000356141.8:c.1917C>A	ENSP00000348460.4:p.Ser639=
ENST00000357798.9:c.1878C>A	ENSP00000350446.5:p.Ser626=
ENST00000548645.5:c.1827C>A	ENSP00000448916.1:p.Ser609=
ENST00000551492.5:c.1932C>A	ENSP00000450392.1:p.Ser644=
ENST00000551634.5:c.1839C>A	ENSP00000448373.1:p.Ser613=
NM_001164749.1:c.1917C>A	NP_001158221.1:p.Ser639=
NM_001165893.1:c.1827C>A	NP_001159365.1:p.Ser609=
NM_022123.2:c.1821C>A	NP_071406.1:p.Ser607=
NM_173159.2:c.1878C>A	NP_775182.1:p.Ser626=
XM_005267991.2:c.1938C>A	XP_005268048.1:p.Ser646=
XM_005267992.2:c.1932C>A	XP_005268049.1:p.Ser644=
XM_005267993.2:c.1878C>A	XP_005268050.1:p.Ser626=
XM_011537067.1:c.1968C>A	XP_011535369.1:p.Ser656=
XM_011537068.1:c.1959C>A	XP_011535370.1:p.Ser653=
XM_011537069.1:c.1929C>A	XP_011535371.1:p.Ser643=
XM_011537070.1:c.1872C>A	XP_011535372.1:p.Ser624=
XM_011537071.1:c.1839C>A	XP_011535373.1:p.Ser613=
XM_011537072.1:c.1818C>A	XP_011535374.1:p.Ser606=
XM_011537073.1:c.1611C>A	XP_011535375.1:p.Ser537=
XM_011537074.1:c.1611C>A	XP_011535376.1:p.Ser537=
XM_005267991.3:c.2025C>A	XP_005268048.2:p.Ser675=
XM_005267992.3:c.2019C>A	XP_005268049.2:p.Ser673=
XM_011537067.2:c.1968C>A	XP_011535369.1:p.Ser656=
XM_011537069.2:c.2016C>A	XP_011535371.2:p.Ser672=
XM_011537070.2:c.1872C>A	XP_011535372.1:p.Ser624=
XM_011537071.2:c.1926C>A	XP_011535373.2:p.Ser642=
XM_011537072.2:c.1818C>A	XP_011535374.1:p.Ser606=
XM_017021582.1:c.2076C>A	XP_016877071.1:p.Ser692=
XM_017021583.1:c.2067C>A	XP_016877072.1:p.Ser689=
XM_017021584.1:c.1986C>A	XP_016877073.1:p.Ser662=
XM_017021585.1:c.1935C>A	XP_016877074.1:p.Ser645=
XM_017021586.1:c.1611C>A	XP_016877075.1:p.Ser537=
XM_017021587.1:c.1611C>A	XP_016877076.1:p.Ser537=
XM_017021588.1:c.1611C>A	XP_016877077.1:p.Ser537=
NM_001164749.2:c.1917C>A MANE Select	NP_001158221.1:p.Ser639=
NM_001165893.2:c.1827C>A	NP_001159365.1:p.Ser609=
NM_022123.3:c.1821C>A	NP_071406.1:p.Ser607=
NM_173159.3:c.1878C>A	NP_775182.1:p.Ser626=
NM_001394988.1:c.1872C>A	NP_001381917.1:p.Ser624=
NM_001394989.1:c.1818C>A	NP_001381918.1:p.Ser606=