Canonical Allele Identifier: CA486092893

Gene: NPAS3

Linked Data

• dbSNP Id: rs2063652939
• MyVariant Identifiers: chr14:g.34269401C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800195C>T , CM000676.2:g.33800195C>T	GRCh38
NC_000014.8:g.34269401C>T , CM000676.1:g.34269401C>T	GRCh37
NC_000014.7:g.33339152C>T	NCBI36
NG_013036.1:g.865943C>T
NG_013036.2:g.865943C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1888C>T MANE Select	ENSP00000348460.4:p.Leu630=
ENST00000551634.6:c.1897C>T	ENSP00000448373.2:p.Leu633=
ENST00000680362.1:c.1788C>T
ENST00000681323.1:c.793+2614C>T
ENST00000346562.6:c.1792C>T	ENSP00000319610.5:p.Leu598=
ENST00000356141.8:c.1888C>T	ENSP00000348460.4:p.Leu630=
ENST00000357798.9:c.1849C>T	ENSP00000350446.5:p.Leu617=
ENST00000548645.5:c.1798C>T	ENSP00000448916.1:p.Leu600=
ENST00000551492.5:c.1903C>T	ENSP00000450392.1:p.Leu635=
ENST00000551634.5:c.1810C>T	ENSP00000448373.1:p.Leu604=
NM_001164749.1:c.1888C>T	NP_001158221.1:p.Leu630=
NM_001165893.1:c.1798C>T	NP_001159365.1:p.Leu600=
NM_022123.2:c.1792C>T	NP_071406.1:p.Leu598=
NM_173159.2:c.1849C>T	NP_775182.1:p.Leu617=
XM_005267991.2:c.1909C>T	XP_005268048.1:p.Leu637=
XM_005267992.2:c.1903C>T	XP_005268049.1:p.Leu635=
XM_005267993.2:c.1849C>T	XP_005268050.1:p.Leu617=
XM_011537067.1:c.1939C>T	XP_011535369.1:p.Leu647=
XM_011537068.1:c.1930C>T	XP_011535370.1:p.Leu644=
XM_011537069.1:c.1900C>T	XP_011535371.1:p.Leu634=
XM_011537070.1:c.1843C>T	XP_011535372.1:p.Leu615=
XM_011537071.1:c.1810C>T	XP_011535373.1:p.Leu604=
XM_011537072.1:c.1789C>T	XP_011535374.1:p.Leu597=
XM_011537073.1:c.1582C>T	XP_011535375.1:p.Leu528=
XM_011537074.1:c.1582C>T	XP_011535376.1:p.Leu528=
XM_005267991.3:c.1996C>T	XP_005268048.2:p.Leu666=
XM_005267992.3:c.1990C>T	XP_005268049.2:p.Leu664=
XM_011537067.2:c.1939C>T	XP_011535369.1:p.Leu647=
XM_011537069.2:c.1987C>T	XP_011535371.2:p.Leu663=
XM_011537070.2:c.1843C>T	XP_011535372.1:p.Leu615=
XM_011537071.2:c.1897C>T	XP_011535373.2:p.Leu633=
XM_011537072.2:c.1789C>T	XP_011535374.1:p.Leu597=
XM_017021582.1:c.2047C>T	XP_016877071.1:p.Leu683=
XM_017021583.1:c.2038C>T	XP_016877072.1:p.Leu680=
XM_017021584.1:c.1957C>T	XP_016877073.1:p.Leu653=
XM_017021585.1:c.1906C>T	XP_016877074.1:p.Leu636=
XM_017021586.1:c.1582C>T	XP_016877075.1:p.Leu528=
XM_017021587.1:c.1582C>T	XP_016877076.1:p.Leu528=
XM_017021588.1:c.1582C>T	XP_016877077.1:p.Leu528=
NM_001164749.2:c.1888C>T MANE Select	NP_001158221.1:p.Leu630=
NM_001165893.2:c.1798C>T	NP_001159365.1:p.Leu600=
NM_022123.3:c.1792C>T	NP_071406.1:p.Leu598=
NM_173159.3:c.1849C>T	NP_775182.1:p.Leu617=
NM_001394988.1:c.1843C>T	NP_001381917.1:p.Leu615=
NM_001394989.1:c.1789C>T	NP_001381918.1:p.Leu597=