Canonical Allele Identifier: CA389412597

Gene: NPAS3

Linked Data

• dbSNP Id: rs1349609512
• gnomAD v2: 14-34269329-C-T
• gnomAD v4: 14-33800123-C-T
• MyVariant Identifiers: chr14:g.34269329C>T (hg19) ; chr14:g.33800123C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800123C>T , CM000676.2:g.33800123C>T	GRCh38
NC_000014.8:g.34269329C>T , CM000676.1:g.34269329C>T	GRCh37
NC_000014.7:g.33339080C>T	NCBI36
NG_013036.1:g.865871C>T
NG_013036.2:g.865871C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1816C>T MANE Select	ENSP00000348460.4:p.Arg606Trp
ENST00000551634.6:c.1825C>T	ENSP00000448373.2:p.Arg609Trp
ENST00000680362.1:c.1716C>T
ENST00000681323.1:c.793+2542C>T
ENST00000346562.6:c.1720C>T	ENSP00000319610.5:p.Arg574Trp
ENST00000356141.8:c.1816C>T	ENSP00000348460.4:p.Arg606Trp
ENST00000357798.9:c.1777C>T	ENSP00000350446.5:p.Arg593Trp
ENST00000548645.5:c.1726C>T	ENSP00000448916.1:p.Arg576Trp
ENST00000551492.5:c.1831C>T	ENSP00000450392.1:p.Arg611Trp
ENST00000551634.5:c.1738C>T	ENSP00000448373.1:p.Arg580Trp
NM_001164749.1:c.1816C>T	NP_001158221.1:p.Arg606Trp
NM_001165893.1:c.1726C>T	NP_001159365.1:p.Arg576Trp
NM_022123.2:c.1720C>T	NP_071406.1:p.Arg574Trp
NM_173159.2:c.1777C>T	NP_775182.1:p.Arg593Trp
XM_005267991.2:c.1837C>T	XP_005268048.1:p.Arg613Trp
XM_005267992.2:c.1831C>T	XP_005268049.1:p.Arg611Trp
XM_005267993.2:c.1777C>T	XP_005268050.1:p.Arg593Trp
XM_011537067.1:c.1867C>T	XP_011535369.1:p.Arg623Trp
XM_011537068.1:c.1858C>T	XP_011535370.1:p.Arg620Trp
XM_011537069.1:c.1828C>T	XP_011535371.1:p.Arg610Trp
XM_011537070.1:c.1771C>T	XP_011535372.1:p.Arg591Trp
XM_011537071.1:c.1738C>T	XP_011535373.1:p.Arg580Trp
XM_011537072.1:c.1717C>T	XP_011535374.1:p.Arg573Trp
XM_011537073.1:c.1510C>T	XP_011535375.1:p.Arg504Trp
XM_011537074.1:c.1510C>T	XP_011535376.1:p.Arg504Trp
XM_005267991.3:c.1924C>T	XP_005268048.2:p.Arg642Trp
XM_005267992.3:c.1918C>T	XP_005268049.2:p.Arg640Trp
XM_011537067.2:c.1867C>T	XP_011535369.1:p.Arg623Trp
XM_011537069.2:c.1915C>T	XP_011535371.2:p.Arg639Trp
XM_011537070.2:c.1771C>T	XP_011535372.1:p.Arg591Trp
XM_011537071.2:c.1825C>T	XP_011535373.2:p.Arg609Trp
XM_011537072.2:c.1717C>T	XP_011535374.1:p.Arg573Trp
XM_017021582.1:c.1975C>T	XP_016877071.1:p.Arg659Trp
XM_017021583.1:c.1966C>T	XP_016877072.1:p.Arg656Trp
XM_017021584.1:c.1885C>T	XP_016877073.1:p.Arg629Trp
XM_017021585.1:c.1834C>T	XP_016877074.1:p.Arg612Trp
XM_017021586.1:c.1510C>T	XP_016877075.1:p.Arg504Trp
XM_017021587.1:c.1510C>T	XP_016877076.1:p.Arg504Trp
XM_017021588.1:c.1510C>T	XP_016877077.1:p.Arg504Trp
NM_001164749.2:c.1816C>T MANE Select	NP_001158221.1:p.Arg606Trp
NM_001165893.2:c.1726C>T	NP_001159365.1:p.Arg576Trp
NM_022123.3:c.1720C>T	NP_071406.1:p.Arg574Trp
NM_173159.3:c.1777C>T	NP_775182.1:p.Arg593Trp
NM_001394988.1:c.1771C>T	NP_001381917.1:p.Arg591Trp
NM_001394989.1:c.1717C>T	NP_001381918.1:p.Arg573Trp