Canonical Allele Identifier: CA7150867

Gene: NPAS3

Linked Data

• dbSNP Id: rs571555043
• ExAC: 14:34269259 C / T
• gnomAD v2: 14-34269259-C-T
• gnomAD v3: 14-33800053-C-T
• gnomAD v4: 14-33800053-C-T
• MyVariant Identifiers: chr14:g.34269259C>T (hg19) ; chr14:g.33800053C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800053C>T , CM000676.2:g.33800053C>T	GRCh38
NC_000014.8:g.34269259C>T , CM000676.1:g.34269259C>T	GRCh37
NC_000014.7:g.33339010C>T	NCBI36
NG_013036.1:g.865801C>T
NG_013036.2:g.865801C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1746C>T MANE Select	ENSP00000348460.4:p.Asp582=
ENST00000551634.6:c.1755C>T	ENSP00000448373.2:p.Asp585=
ENST00000680362.1:c.1646C>T
ENST00000681323.1:c.793+2472C>T
ENST00000346562.6:c.1650C>T	ENSP00000319610.5:p.Asp550=
ENST00000356141.8:c.1746C>T	ENSP00000348460.4:p.Asp582=
ENST00000357798.9:c.1707C>T	ENSP00000350446.5:p.Asp569=
ENST00000548645.5:c.1656C>T	ENSP00000448916.1:p.Asp552=
ENST00000551492.5:c.1761C>T	ENSP00000450392.1:p.Asp587=
ENST00000551634.5:c.1668C>T	ENSP00000448373.1:p.Asp556=
NM_001164749.1:c.1746C>T	NP_001158221.1:p.Asp582=
NM_001165893.1:c.1656C>T	NP_001159365.1:p.Asp552=
NM_022123.2:c.1650C>T	NP_071406.1:p.Asp550=
NM_173159.2:c.1707C>T	NP_775182.1:p.Asp569=
XM_005267991.2:c.1767C>T	XP_005268048.1:p.Asp589=
XM_005267992.2:c.1761C>T	XP_005268049.1:p.Asp587=
XM_005267993.2:c.1707C>T	XP_005268050.1:p.Asp569=
XM_011537067.1:c.1797C>T	XP_011535369.1:p.Asp599=
XM_011537068.1:c.1788C>T	XP_011535370.1:p.Asp596=
XM_011537069.1:c.1758C>T	XP_011535371.1:p.Asp586=
XM_011537070.1:c.1701C>T	XP_011535372.1:p.Asp567=
XM_011537071.1:c.1668C>T	XP_011535373.1:p.Asp556=
XM_011537072.1:c.1647C>T	XP_011535374.1:p.Asp549=
XM_011537073.1:c.1440C>T	XP_011535375.1:p.Asp480=
XM_011537074.1:c.1440C>T	XP_011535376.1:p.Asp480=
XM_005267991.3:c.1854C>T	XP_005268048.2:p.Asp618=
XM_005267992.3:c.1848C>T	XP_005268049.2:p.Asp616=
XM_011537067.2:c.1797C>T	XP_011535369.1:p.Asp599=
XM_011537069.2:c.1845C>T	XP_011535371.2:p.Asp615=
XM_011537070.2:c.1701C>T	XP_011535372.1:p.Asp567=
XM_011537071.2:c.1755C>T	XP_011535373.2:p.Asp585=
XM_011537072.2:c.1647C>T	XP_011535374.1:p.Asp549=
XM_017021582.1:c.1905C>T	XP_016877071.1:p.Asp635=
XM_017021583.1:c.1896C>T	XP_016877072.1:p.Asp632=
XM_017021584.1:c.1815C>T	XP_016877073.1:p.Asp605=
XM_017021585.1:c.1764C>T	XP_016877074.1:p.Asp588=
XM_017021586.1:c.1440C>T	XP_016877075.1:p.Asp480=
XM_017021587.1:c.1440C>T	XP_016877076.1:p.Asp480=
XM_017021588.1:c.1440C>T	XP_016877077.1:p.Asp480=
NM_001164749.2:c.1746C>T MANE Select	NP_001158221.1:p.Asp582=
NM_001165893.2:c.1656C>T	NP_001159365.1:p.Asp552=
NM_022123.3:c.1650C>T	NP_071406.1:p.Asp550=
NM_173159.3:c.1707C>T	NP_775182.1:p.Asp569=
NM_001394988.1:c.1701C>T	NP_001381917.1:p.Asp567=
NM_001394989.1:c.1647C>T	NP_001381918.1:p.Asp549=