Canonical Allele Identifier: CA389412555

Gene: NPAS3

Linked Data

• dbSNP Id: rs1386144045
• gnomAD v2: 14-34269323-C-T
• gnomAD v4: 14-33800117-C-T
• MyVariant Identifiers: chr14:g.34269323C>T (hg19) ; chr14:g.33800117C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800117C>T , CM000676.2:g.33800117C>T	GRCh38
NC_000014.8:g.34269323C>T , CM000676.1:g.34269323C>T	GRCh37
NC_000014.7:g.33339074C>T	NCBI36
NG_013036.1:g.865865C>T
NG_013036.2:g.865865C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1810C>T MANE Select	ENSP00000348460.4:p.Arg604Trp
ENST00000551634.6:c.1819C>T	ENSP00000448373.2:p.Arg607Trp
ENST00000680362.1:c.1710C>T
ENST00000681323.1:c.793+2536C>T
ENST00000346562.6:c.1714C>T	ENSP00000319610.5:p.Arg572Trp
ENST00000356141.8:c.1810C>T	ENSP00000348460.4:p.Arg604Trp
ENST00000357798.9:c.1771C>T	ENSP00000350446.5:p.Arg591Trp
ENST00000548645.5:c.1720C>T	ENSP00000448916.1:p.Arg574Trp
ENST00000551492.5:c.1825C>T	ENSP00000450392.1:p.Arg609Trp
ENST00000551634.5:c.1732C>T	ENSP00000448373.1:p.Arg578Trp
NM_001164749.1:c.1810C>T	NP_001158221.1:p.Arg604Trp
NM_001165893.1:c.1720C>T	NP_001159365.1:p.Arg574Trp
NM_022123.2:c.1714C>T	NP_071406.1:p.Arg572Trp
NM_173159.2:c.1771C>T	NP_775182.1:p.Arg591Trp
XM_005267991.2:c.1831C>T	XP_005268048.1:p.Arg611Trp
XM_005267992.2:c.1825C>T	XP_005268049.1:p.Arg609Trp
XM_005267993.2:c.1771C>T	XP_005268050.1:p.Arg591Trp
XM_011537067.1:c.1861C>T	XP_011535369.1:p.Arg621Trp
XM_011537068.1:c.1852C>T	XP_011535370.1:p.Arg618Trp
XM_011537069.1:c.1822C>T	XP_011535371.1:p.Arg608Trp
XM_011537070.1:c.1765C>T	XP_011535372.1:p.Arg589Trp
XM_011537071.1:c.1732C>T	XP_011535373.1:p.Arg578Trp
XM_011537072.1:c.1711C>T	XP_011535374.1:p.Arg571Trp
XM_011537073.1:c.1504C>T	XP_011535375.1:p.Arg502Trp
XM_011537074.1:c.1504C>T	XP_011535376.1:p.Arg502Trp
XM_005267991.3:c.1918C>T	XP_005268048.2:p.Arg640Trp
XM_005267992.3:c.1912C>T	XP_005268049.2:p.Arg638Trp
XM_011537067.2:c.1861C>T	XP_011535369.1:p.Arg621Trp
XM_011537069.2:c.1909C>T	XP_011535371.2:p.Arg637Trp
XM_011537070.2:c.1765C>T	XP_011535372.1:p.Arg589Trp
XM_011537071.2:c.1819C>T	XP_011535373.2:p.Arg607Trp
XM_011537072.2:c.1711C>T	XP_011535374.1:p.Arg571Trp
XM_017021582.1:c.1969C>T	XP_016877071.1:p.Arg657Trp
XM_017021583.1:c.1960C>T	XP_016877072.1:p.Arg654Trp
XM_017021584.1:c.1879C>T	XP_016877073.1:p.Arg627Trp
XM_017021585.1:c.1828C>T	XP_016877074.1:p.Arg610Trp
XM_017021586.1:c.1504C>T	XP_016877075.1:p.Arg502Trp
XM_017021587.1:c.1504C>T	XP_016877076.1:p.Arg502Trp
XM_017021588.1:c.1504C>T	XP_016877077.1:p.Arg502Trp
NM_001164749.2:c.1810C>T MANE Select	NP_001158221.1:p.Arg604Trp
NM_001165893.2:c.1720C>T	NP_001159365.1:p.Arg574Trp
NM_022123.3:c.1714C>T	NP_071406.1:p.Arg572Trp
NM_173159.3:c.1771C>T	NP_775182.1:p.Arg591Trp
NM_001394988.1:c.1765C>T	NP_001381917.1:p.Arg589Trp
NM_001394989.1:c.1711C>T	NP_001381918.1:p.Arg571Trp