Canonical Allele Identifier: CA389412531

Gene: NPAS3

Linked Data

• MyVariant Identifiers: chr14:g.34269318A>C (hg19) ; chr14:g.33800112A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800112A>C , CM000676.2:g.33800112A>C	GRCh38
NC_000014.8:g.34269318A>C , CM000676.1:g.34269318A>C	GRCh37
NC_000014.7:g.33339069A>C	NCBI36
NG_013036.1:g.865860A>C
NG_013036.2:g.865860A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1805A>C MANE Select	ENSP00000348460.4:p.Lys602Thr
ENST00000551634.6:c.1814A>C	ENSP00000448373.2:p.Lys605Thr
ENST00000680362.1:c.1705A>C
ENST00000681323.1:c.793+2531A>C
ENST00000346562.6:c.1709A>C	ENSP00000319610.5:p.Lys570Thr
ENST00000356141.8:c.1805A>C	ENSP00000348460.4:p.Lys602Thr
ENST00000357798.9:c.1766A>C	ENSP00000350446.5:p.Lys589Thr
ENST00000548645.5:c.1715A>C	ENSP00000448916.1:p.Lys572Thr
ENST00000551492.5:c.1820A>C	ENSP00000450392.1:p.Lys607Thr
ENST00000551634.5:c.1727A>C	ENSP00000448373.1:p.Lys576Thr
NM_001164749.1:c.1805A>C	NP_001158221.1:p.Lys602Thr
NM_001165893.1:c.1715A>C	NP_001159365.1:p.Lys572Thr
NM_022123.2:c.1709A>C	NP_071406.1:p.Lys570Thr
NM_173159.2:c.1766A>C	NP_775182.1:p.Lys589Thr
XM_005267991.2:c.1826A>C	XP_005268048.1:p.Lys609Thr
XM_005267992.2:c.1820A>C	XP_005268049.1:p.Lys607Thr
XM_005267993.2:c.1766A>C	XP_005268050.1:p.Lys589Thr
XM_011537067.1:c.1856A>C	XP_011535369.1:p.Lys619Thr
XM_011537068.1:c.1847A>C	XP_011535370.1:p.Lys616Thr
XM_011537069.1:c.1817A>C	XP_011535371.1:p.Lys606Thr
XM_011537070.1:c.1760A>C	XP_011535372.1:p.Lys587Thr
XM_011537071.1:c.1727A>C	XP_011535373.1:p.Lys576Thr
XM_011537072.1:c.1706A>C	XP_011535374.1:p.Lys569Thr
XM_011537073.1:c.1499A>C	XP_011535375.1:p.Lys500Thr
XM_011537074.1:c.1499A>C	XP_011535376.1:p.Lys500Thr
XM_005267991.3:c.1913A>C	XP_005268048.2:p.Lys638Thr
XM_005267992.3:c.1907A>C	XP_005268049.2:p.Lys636Thr
XM_011537067.2:c.1856A>C	XP_011535369.1:p.Lys619Thr
XM_011537069.2:c.1904A>C	XP_011535371.2:p.Lys635Thr
XM_011537070.2:c.1760A>C	XP_011535372.1:p.Lys587Thr
XM_011537071.2:c.1814A>C	XP_011535373.2:p.Lys605Thr
XM_011537072.2:c.1706A>C	XP_011535374.1:p.Lys569Thr
XM_017021582.1:c.1964A>C	XP_016877071.1:p.Lys655Thr
XM_017021583.1:c.1955A>C	XP_016877072.1:p.Lys652Thr
XM_017021584.1:c.1874A>C	XP_016877073.1:p.Lys625Thr
XM_017021585.1:c.1823A>C	XP_016877074.1:p.Lys608Thr
XM_017021586.1:c.1499A>C	XP_016877075.1:p.Lys500Thr
XM_017021587.1:c.1499A>C	XP_016877076.1:p.Lys500Thr
XM_017021588.1:c.1499A>C	XP_016877077.1:p.Lys500Thr
NM_001164749.2:c.1805A>C MANE Select	NP_001158221.1:p.Lys602Thr
NM_001165893.2:c.1715A>C	NP_001159365.1:p.Lys572Thr
NM_022123.3:c.1709A>C	NP_071406.1:p.Lys570Thr
NM_173159.3:c.1766A>C	NP_775182.1:p.Lys589Thr
NM_001394988.1:c.1760A>C	NP_001381917.1:p.Lys587Thr
NM_001394989.1:c.1706A>C	NP_001381918.1:p.Lys569Thr