Canonical Allele Identifier: CA7150868

Gene: NPAS3

Linked Data

• dbSNP Id: rs538895297
• ExAC: 14:34269265 C / T
• gnomAD v2: 14-34269265-C-T
• gnomAD v3: 14-33800059-C-T
• gnomAD v4: 14-33800059-C-T
• MyVariant Identifiers: chr14:g.34269265C>T (hg19) ; chr14:g.33800059C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800059C>T , CM000676.2:g.33800059C>T	GRCh38
NC_000014.8:g.34269265C>T , CM000676.1:g.34269265C>T	GRCh37
NC_000014.7:g.33339016C>T	NCBI36
NG_013036.1:g.865807C>T
NG_013036.2:g.865807C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1752C>T MANE Select	ENSP00000348460.4:p.Asp584=
ENST00000551634.6:c.1761C>T	ENSP00000448373.2:p.Asp587=
ENST00000680362.1:c.1652C>T
ENST00000681323.1:c.793+2478C>T
ENST00000346562.6:c.1656C>T	ENSP00000319610.5:p.Asp552=
ENST00000356141.8:c.1752C>T	ENSP00000348460.4:p.Asp584=
ENST00000357798.9:c.1713C>T	ENSP00000350446.5:p.Asp571=
ENST00000548645.5:c.1662C>T	ENSP00000448916.1:p.Asp554=
ENST00000551492.5:c.1767C>T	ENSP00000450392.1:p.Asp589=
ENST00000551634.5:c.1674C>T	ENSP00000448373.1:p.Asp558=
NM_001164749.1:c.1752C>T	NP_001158221.1:p.Asp584=
NM_001165893.1:c.1662C>T	NP_001159365.1:p.Asp554=
NM_022123.2:c.1656C>T	NP_071406.1:p.Asp552=
NM_173159.2:c.1713C>T	NP_775182.1:p.Asp571=
XM_005267991.2:c.1773C>T	XP_005268048.1:p.Asp591=
XM_005267992.2:c.1767C>T	XP_005268049.1:p.Asp589=
XM_005267993.2:c.1713C>T	XP_005268050.1:p.Asp571=
XM_011537067.1:c.1803C>T	XP_011535369.1:p.Asp601=
XM_011537068.1:c.1794C>T	XP_011535370.1:p.Asp598=
XM_011537069.1:c.1764C>T	XP_011535371.1:p.Asp588=
XM_011537070.1:c.1707C>T	XP_011535372.1:p.Asp569=
XM_011537071.1:c.1674C>T	XP_011535373.1:p.Asp558=
XM_011537072.1:c.1653C>T	XP_011535374.1:p.Asp551=
XM_011537073.1:c.1446C>T	XP_011535375.1:p.Asp482=
XM_011537074.1:c.1446C>T	XP_011535376.1:p.Asp482=
XM_005267991.3:c.1860C>T	XP_005268048.2:p.Asp620=
XM_005267992.3:c.1854C>T	XP_005268049.2:p.Asp618=
XM_011537067.2:c.1803C>T	XP_011535369.1:p.Asp601=
XM_011537069.2:c.1851C>T	XP_011535371.2:p.Asp617=
XM_011537070.2:c.1707C>T	XP_011535372.1:p.Asp569=
XM_011537071.2:c.1761C>T	XP_011535373.2:p.Asp587=
XM_011537072.2:c.1653C>T	XP_011535374.1:p.Asp551=
XM_017021582.1:c.1911C>T	XP_016877071.1:p.Asp637=
XM_017021583.1:c.1902C>T	XP_016877072.1:p.Asp634=
XM_017021584.1:c.1821C>T	XP_016877073.1:p.Asp607=
XM_017021585.1:c.1770C>T	XP_016877074.1:p.Asp590=
XM_017021586.1:c.1446C>T	XP_016877075.1:p.Asp482=
XM_017021587.1:c.1446C>T	XP_016877076.1:p.Asp482=
XM_017021588.1:c.1446C>T	XP_016877077.1:p.Asp482=
NM_001164749.2:c.1752C>T MANE Select	NP_001158221.1:p.Asp584=
NM_001165893.2:c.1662C>T	NP_001159365.1:p.Asp554=
NM_022123.3:c.1656C>T	NP_071406.1:p.Asp552=
NM_173159.3:c.1713C>T	NP_775182.1:p.Asp571=
NM_001394988.1:c.1707C>T	NP_001381917.1:p.Asp569=
NM_001394989.1:c.1653C>T	NP_001381918.1:p.Asp551=