Canonical Allele Identifier: CA486092927

Gene: NPAS3

Linked Data

• gnomAD v4: 14-33800218-G-C
• MyVariant Identifiers: chr14:g.34269424G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800218G>C , CM000676.2:g.33800218G>C	GRCh38
NC_000014.8:g.34269424G>C , CM000676.1:g.34269424G>C	GRCh37
NC_000014.7:g.33339175G>C	NCBI36
NG_013036.1:g.865966G>C
NG_013036.2:g.865966G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1911G>C MANE Select	ENSP00000348460.4:p.Leu637=
ENST00000551634.6:c.1920G>C	ENSP00000448373.2:p.Leu640=
ENST00000680362.1:c.1811G>C
ENST00000681323.1:c.793+2637G>C
ENST00000346562.6:c.1815G>C	ENSP00000319610.5:p.Leu605=
ENST00000356141.8:c.1911G>C	ENSP00000348460.4:p.Leu637=
ENST00000357798.9:c.1872G>C	ENSP00000350446.5:p.Leu624=
ENST00000548645.5:c.1821G>C	ENSP00000448916.1:p.Leu607=
ENST00000551492.5:c.1926G>C	ENSP00000450392.1:p.Leu642=
ENST00000551634.5:c.1833G>C	ENSP00000448373.1:p.Leu611=
NM_001164749.1:c.1911G>C	NP_001158221.1:p.Leu637=
NM_001165893.1:c.1821G>C	NP_001159365.1:p.Leu607=
NM_022123.2:c.1815G>C	NP_071406.1:p.Leu605=
NM_173159.2:c.1872G>C	NP_775182.1:p.Leu624=
XM_005267991.2:c.1932G>C	XP_005268048.1:p.Leu644=
XM_005267992.2:c.1926G>C	XP_005268049.1:p.Leu642=
XM_005267993.2:c.1872G>C	XP_005268050.1:p.Leu624=
XM_011537067.1:c.1962G>C	XP_011535369.1:p.Leu654=
XM_011537068.1:c.1953G>C	XP_011535370.1:p.Leu651=
XM_011537069.1:c.1923G>C	XP_011535371.1:p.Leu641=
XM_011537070.1:c.1866G>C	XP_011535372.1:p.Leu622=
XM_011537071.1:c.1833G>C	XP_011535373.1:p.Leu611=
XM_011537072.1:c.1812G>C	XP_011535374.1:p.Leu604=
XM_011537073.1:c.1605G>C	XP_011535375.1:p.Leu535=
XM_011537074.1:c.1605G>C	XP_011535376.1:p.Leu535=
XM_005267991.3:c.2019G>C	XP_005268048.2:p.Leu673=
XM_005267992.3:c.2013G>C	XP_005268049.2:p.Leu671=
XM_011537067.2:c.1962G>C	XP_011535369.1:p.Leu654=
XM_011537069.2:c.2010G>C	XP_011535371.2:p.Leu670=
XM_011537070.2:c.1866G>C	XP_011535372.1:p.Leu622=
XM_011537071.2:c.1920G>C	XP_011535373.2:p.Leu640=
XM_011537072.2:c.1812G>C	XP_011535374.1:p.Leu604=
XM_017021582.1:c.2070G>C	XP_016877071.1:p.Leu690=
XM_017021583.1:c.2061G>C	XP_016877072.1:p.Leu687=
XM_017021584.1:c.1980G>C	XP_016877073.1:p.Leu660=
XM_017021585.1:c.1929G>C	XP_016877074.1:p.Leu643=
XM_017021586.1:c.1605G>C	XP_016877075.1:p.Leu535=
XM_017021587.1:c.1605G>C	XP_016877076.1:p.Leu535=
XM_017021588.1:c.1605G>C	XP_016877077.1:p.Leu535=
NM_001164749.2:c.1911G>C MANE Select	NP_001158221.1:p.Leu637=
NM_001165893.2:c.1821G>C	NP_001159365.1:p.Leu607=
NM_022123.3:c.1815G>C	NP_071406.1:p.Leu605=
NM_173159.3:c.1872G>C	NP_775182.1:p.Leu624=
NM_001394988.1:c.1866G>C	NP_001381917.1:p.Leu622=
NM_001394989.1:c.1812G>C	NP_001381918.1:p.Leu604=