Canonical Allele Identifier: CA389412299

Gene: NPAS3

Linked Data

• MyVariant Identifiers: chr14:g.34269282G>C (hg19) ; chr14:g.33800076G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800076G>C , CM000676.2:g.33800076G>C	GRCh38
NC_000014.8:g.34269282G>C , CM000676.1:g.34269282G>C	GRCh37
NC_000014.7:g.33339033G>C	NCBI36
NG_013036.1:g.865824G>C
NG_013036.2:g.865824G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1769G>C MANE Select	ENSP00000348460.4:p.Gly590Ala
ENST00000551634.6:c.1778G>C	ENSP00000448373.2:p.Gly593Ala
ENST00000680362.1:c.1669G>C
ENST00000681323.1:c.793+2495G>C
ENST00000346562.6:c.1673G>C	ENSP00000319610.5:p.Gly558Ala
ENST00000356141.8:c.1769G>C	ENSP00000348460.4:p.Gly590Ala
ENST00000357798.9:c.1730G>C	ENSP00000350446.5:p.Gly577Ala
ENST00000548645.5:c.1679G>C	ENSP00000448916.1:p.Gly560Ala
ENST00000551492.5:c.1784G>C	ENSP00000450392.1:p.Gly595Ala
ENST00000551634.5:c.1691G>C	ENSP00000448373.1:p.Gly564Ala
NM_001164749.1:c.1769G>C	NP_001158221.1:p.Gly590Ala
NM_001165893.1:c.1679G>C	NP_001159365.1:p.Gly560Ala
NM_022123.2:c.1673G>C	NP_071406.1:p.Gly558Ala
NM_173159.2:c.1730G>C	NP_775182.1:p.Gly577Ala
XM_005267991.2:c.1790G>C	XP_005268048.1:p.Gly597Ala
XM_005267992.2:c.1784G>C	XP_005268049.1:p.Gly595Ala
XM_005267993.2:c.1730G>C	XP_005268050.1:p.Gly577Ala
XM_011537067.1:c.1820G>C	XP_011535369.1:p.Gly607Ala
XM_011537068.1:c.1811G>C	XP_011535370.1:p.Gly604Ala
XM_011537069.1:c.1781G>C	XP_011535371.1:p.Gly594Ala
XM_011537070.1:c.1724G>C	XP_011535372.1:p.Gly575Ala
XM_011537071.1:c.1691G>C	XP_011535373.1:p.Gly564Ala
XM_011537072.1:c.1670G>C	XP_011535374.1:p.Gly557Ala
XM_011537073.1:c.1463G>C	XP_011535375.1:p.Gly488Ala
XM_011537074.1:c.1463G>C	XP_011535376.1:p.Gly488Ala
XM_005267991.3:c.1877G>C	XP_005268048.2:p.Gly626Ala
XM_005267992.3:c.1871G>C	XP_005268049.2:p.Gly624Ala
XM_011537067.2:c.1820G>C	XP_011535369.1:p.Gly607Ala
XM_011537069.2:c.1868G>C	XP_011535371.2:p.Gly623Ala
XM_011537070.2:c.1724G>C	XP_011535372.1:p.Gly575Ala
XM_011537071.2:c.1778G>C	XP_011535373.2:p.Gly593Ala
XM_011537072.2:c.1670G>C	XP_011535374.1:p.Gly557Ala
XM_017021582.1:c.1928G>C	XP_016877071.1:p.Gly643Ala
XM_017021583.1:c.1919G>C	XP_016877072.1:p.Gly640Ala
XM_017021584.1:c.1838G>C	XP_016877073.1:p.Gly613Ala
XM_017021585.1:c.1787G>C	XP_016877074.1:p.Gly596Ala
XM_017021586.1:c.1463G>C	XP_016877075.1:p.Gly488Ala
XM_017021587.1:c.1463G>C	XP_016877076.1:p.Gly488Ala
XM_017021588.1:c.1463G>C	XP_016877077.1:p.Gly488Ala
NM_001164749.2:c.1769G>C MANE Select	NP_001158221.1:p.Gly590Ala
NM_001165893.2:c.1679G>C	NP_001159365.1:p.Gly560Ala
NM_022123.3:c.1673G>C	NP_071406.1:p.Gly558Ala
NM_173159.3:c.1730G>C	NP_775182.1:p.Gly577Ala
NM_001394988.1:c.1724G>C	NP_001381917.1:p.Gly575Ala
NM_001394989.1:c.1670G>C	NP_001381918.1:p.Gly557Ala