Canonical Allele Identifier: CA389412605

Gene: NPAS3

Linked Data

• gnomAD v4: 14-33800124-G-T
• MyVariant Identifiers: chr14:g.34269330G>T (hg19) ; chr14:g.33800124G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800124G>T , CM000676.2:g.33800124G>T	GRCh38
NC_000014.8:g.34269330G>T , CM000676.1:g.34269330G>T	GRCh37
NC_000014.7:g.33339081G>T	NCBI36
NG_013036.1:g.865872G>T
NG_013036.2:g.865872G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1817G>T MANE Select	ENSP00000348460.4:p.Arg606Leu
ENST00000551634.6:c.1826G>T	ENSP00000448373.2:p.Arg609Leu
ENST00000680362.1:c.1717G>T
ENST00000681323.1:c.793+2543G>T
ENST00000346562.6:c.1721G>T	ENSP00000319610.5:p.Arg574Leu
ENST00000356141.8:c.1817G>T	ENSP00000348460.4:p.Arg606Leu
ENST00000357798.9:c.1778G>T	ENSP00000350446.5:p.Arg593Leu
ENST00000548645.5:c.1727G>T	ENSP00000448916.1:p.Arg576Leu
ENST00000551492.5:c.1832G>T	ENSP00000450392.1:p.Arg611Leu
ENST00000551634.5:c.1739G>T	ENSP00000448373.1:p.Arg580Leu
NM_001164749.1:c.1817G>T	NP_001158221.1:p.Arg606Leu
NM_001165893.1:c.1727G>T	NP_001159365.1:p.Arg576Leu
NM_022123.2:c.1721G>T	NP_071406.1:p.Arg574Leu
NM_173159.2:c.1778G>T	NP_775182.1:p.Arg593Leu
XM_005267991.2:c.1838G>T	XP_005268048.1:p.Arg613Leu
XM_005267992.2:c.1832G>T	XP_005268049.1:p.Arg611Leu
XM_005267993.2:c.1778G>T	XP_005268050.1:p.Arg593Leu
XM_011537067.1:c.1868G>T	XP_011535369.1:p.Arg623Leu
XM_011537068.1:c.1859G>T	XP_011535370.1:p.Arg620Leu
XM_011537069.1:c.1829G>T	XP_011535371.1:p.Arg610Leu
XM_011537070.1:c.1772G>T	XP_011535372.1:p.Arg591Leu
XM_011537071.1:c.1739G>T	XP_011535373.1:p.Arg580Leu
XM_011537072.1:c.1718G>T	XP_011535374.1:p.Arg573Leu
XM_011537073.1:c.1511G>T	XP_011535375.1:p.Arg504Leu
XM_011537074.1:c.1511G>T	XP_011535376.1:p.Arg504Leu
XM_005267991.3:c.1925G>T	XP_005268048.2:p.Arg642Leu
XM_005267992.3:c.1919G>T	XP_005268049.2:p.Arg640Leu
XM_011537067.2:c.1868G>T	XP_011535369.1:p.Arg623Leu
XM_011537069.2:c.1916G>T	XP_011535371.2:p.Arg639Leu
XM_011537070.2:c.1772G>T	XP_011535372.1:p.Arg591Leu
XM_011537071.2:c.1826G>T	XP_011535373.2:p.Arg609Leu
XM_011537072.2:c.1718G>T	XP_011535374.1:p.Arg573Leu
XM_017021582.1:c.1976G>T	XP_016877071.1:p.Arg659Leu
XM_017021583.1:c.1967G>T	XP_016877072.1:p.Arg656Leu
XM_017021584.1:c.1886G>T	XP_016877073.1:p.Arg629Leu
XM_017021585.1:c.1835G>T	XP_016877074.1:p.Arg612Leu
XM_017021586.1:c.1511G>T	XP_016877075.1:p.Arg504Leu
XM_017021587.1:c.1511G>T	XP_016877076.1:p.Arg504Leu
XM_017021588.1:c.1511G>T	XP_016877077.1:p.Arg504Leu
NM_001164749.2:c.1817G>T MANE Select	NP_001158221.1:p.Arg606Leu
NM_001165893.2:c.1727G>T	NP_001159365.1:p.Arg576Leu
NM_022123.3:c.1721G>T	NP_071406.1:p.Arg574Leu
NM_173159.3:c.1778G>T	NP_775182.1:p.Arg593Leu
NM_001394988.1:c.1772G>T	NP_001381917.1:p.Arg591Leu
NM_001394989.1:c.1718G>T	NP_001381918.1:p.Arg573Leu