Canonical Allele Identifier: CA389412144

Gene: NPAS3

Linked Data

• MyVariant Identifiers: chr14:g.34269256G>C (hg19) ; chr14:g.33800050G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800050G>C , CM000676.2:g.33800050G>C	GRCh38
NC_000014.8:g.34269256G>C , CM000676.1:g.34269256G>C	GRCh37
NC_000014.7:g.33339007G>C	NCBI36
NG_013036.1:g.865798G>C
NG_013036.2:g.865798G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1743G>C MANE Select	ENSP00000348460.4:p.Lys581Asn
ENST00000551634.6:c.1752G>C	ENSP00000448373.2:p.Lys584Asn
ENST00000680362.1:c.1643G>C
ENST00000681323.1:c.793+2469G>C
ENST00000346562.6:c.1647G>C	ENSP00000319610.5:p.Lys549Asn
ENST00000356141.8:c.1743G>C	ENSP00000348460.4:p.Lys581Asn
ENST00000357798.9:c.1704G>C	ENSP00000350446.5:p.Lys568Asn
ENST00000548645.5:c.1653G>C	ENSP00000448916.1:p.Lys551Asn
ENST00000551492.5:c.1758G>C	ENSP00000450392.1:p.Lys586Asn
ENST00000551634.5:c.1665G>C	ENSP00000448373.1:p.Lys555Asn
NM_001164749.1:c.1743G>C	NP_001158221.1:p.Lys581Asn
NM_001165893.1:c.1653G>C	NP_001159365.1:p.Lys551Asn
NM_022123.2:c.1647G>C	NP_071406.1:p.Lys549Asn
NM_173159.2:c.1704G>C	NP_775182.1:p.Lys568Asn
XM_005267991.2:c.1764G>C	XP_005268048.1:p.Lys588Asn
XM_005267992.2:c.1758G>C	XP_005268049.1:p.Lys586Asn
XM_005267993.2:c.1704G>C	XP_005268050.1:p.Lys568Asn
XM_011537067.1:c.1794G>C	XP_011535369.1:p.Lys598Asn
XM_011537068.1:c.1785G>C	XP_011535370.1:p.Lys595Asn
XM_011537069.1:c.1755G>C	XP_011535371.1:p.Lys585Asn
XM_011537070.1:c.1698G>C	XP_011535372.1:p.Lys566Asn
XM_011537071.1:c.1665G>C	XP_011535373.1:p.Lys555Asn
XM_011537072.1:c.1644G>C	XP_011535374.1:p.Lys548Asn
XM_011537073.1:c.1437G>C	XP_011535375.1:p.Lys479Asn
XM_011537074.1:c.1437G>C	XP_011535376.1:p.Lys479Asn
XM_005267991.3:c.1851G>C	XP_005268048.2:p.Lys617Asn
XM_005267992.3:c.1845G>C	XP_005268049.2:p.Lys615Asn
XM_011537067.2:c.1794G>C	XP_011535369.1:p.Lys598Asn
XM_011537069.2:c.1842G>C	XP_011535371.2:p.Lys614Asn
XM_011537070.2:c.1698G>C	XP_011535372.1:p.Lys566Asn
XM_011537071.2:c.1752G>C	XP_011535373.2:p.Lys584Asn
XM_011537072.2:c.1644G>C	XP_011535374.1:p.Lys548Asn
XM_017021582.1:c.1902G>C	XP_016877071.1:p.Lys634Asn
XM_017021583.1:c.1893G>C	XP_016877072.1:p.Lys631Asn
XM_017021584.1:c.1812G>C	XP_016877073.1:p.Lys604Asn
XM_017021585.1:c.1761G>C	XP_016877074.1:p.Lys587Asn
XM_017021586.1:c.1437G>C	XP_016877075.1:p.Lys479Asn
XM_017021587.1:c.1437G>C	XP_016877076.1:p.Lys479Asn
XM_017021588.1:c.1437G>C	XP_016877077.1:p.Lys479Asn
NM_001164749.2:c.1743G>C MANE Select	NP_001158221.1:p.Lys581Asn
NM_001165893.2:c.1653G>C	NP_001159365.1:p.Lys551Asn
NM_022123.3:c.1647G>C	NP_071406.1:p.Lys549Asn
NM_173159.3:c.1704G>C	NP_775182.1:p.Lys568Asn
NM_001394988.1:c.1698G>C	NP_001381917.1:p.Lys566Asn
NM_001394989.1:c.1644G>C	NP_001381918.1:p.Lys548Asn