Canonical Allele Identifier: CA486092982

Gene: NPAS3

Linked Data

• dbSNP Id: rs1374906105
• gnomAD v4: 14-33800080-G-A
• MyVariant Identifiers: chr14:g.34269286G>A (hg19) ; chr14:g.33800080G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800080G>A , CM000676.2:g.33800080G>A	GRCh38
NC_000014.8:g.34269286G>A , CM000676.1:g.34269286G>A	GRCh37
NC_000014.7:g.33339037G>A	NCBI36
NG_013036.1:g.865828G>A
NG_013036.2:g.865828G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1773G>A MANE Select	ENSP00000348460.4:p.Ala591=
ENST00000551634.6:c.1782G>A	ENSP00000448373.2:p.Ala594=
ENST00000680362.1:c.1673G>A
ENST00000681323.1:c.793+2499G>A
ENST00000346562.6:c.1677G>A	ENSP00000319610.5:p.Ala559=
ENST00000356141.8:c.1773G>A	ENSP00000348460.4:p.Ala591=
ENST00000357798.9:c.1734G>A	ENSP00000350446.5:p.Ala578=
ENST00000548645.5:c.1683G>A	ENSP00000448916.1:p.Ala561=
ENST00000551492.5:c.1788G>A	ENSP00000450392.1:p.Ala596=
ENST00000551634.5:c.1695G>A	ENSP00000448373.1:p.Ala565=
NM_001164749.1:c.1773G>A	NP_001158221.1:p.Ala591=
NM_001165893.1:c.1683G>A	NP_001159365.1:p.Ala561=
NM_022123.2:c.1677G>A	NP_071406.1:p.Ala559=
NM_173159.2:c.1734G>A	NP_775182.1:p.Ala578=
XM_005267991.2:c.1794G>A	XP_005268048.1:p.Ala598=
XM_005267992.2:c.1788G>A	XP_005268049.1:p.Ala596=
XM_005267993.2:c.1734G>A	XP_005268050.1:p.Ala578=
XM_011537067.1:c.1824G>A	XP_011535369.1:p.Ala608=
XM_011537068.1:c.1815G>A	XP_011535370.1:p.Ala605=
XM_011537069.1:c.1785G>A	XP_011535371.1:p.Ala595=
XM_011537070.1:c.1728G>A	XP_011535372.1:p.Ala576=
XM_011537071.1:c.1695G>A	XP_011535373.1:p.Ala565=
XM_011537072.1:c.1674G>A	XP_011535374.1:p.Ala558=
XM_011537073.1:c.1467G>A	XP_011535375.1:p.Ala489=
XM_011537074.1:c.1467G>A	XP_011535376.1:p.Ala489=
XM_005267991.3:c.1881G>A	XP_005268048.2:p.Ala627=
XM_005267992.3:c.1875G>A	XP_005268049.2:p.Ala625=
XM_011537067.2:c.1824G>A	XP_011535369.1:p.Ala608=
XM_011537069.2:c.1872G>A	XP_011535371.2:p.Ala624=
XM_011537070.2:c.1728G>A	XP_011535372.1:p.Ala576=
XM_011537071.2:c.1782G>A	XP_011535373.2:p.Ala594=
XM_011537072.2:c.1674G>A	XP_011535374.1:p.Ala558=
XM_017021582.1:c.1932G>A	XP_016877071.1:p.Ala644=
XM_017021583.1:c.1923G>A	XP_016877072.1:p.Ala641=
XM_017021584.1:c.1842G>A	XP_016877073.1:p.Ala614=
XM_017021585.1:c.1791G>A	XP_016877074.1:p.Ala597=
XM_017021586.1:c.1467G>A	XP_016877075.1:p.Ala489=
XM_017021587.1:c.1467G>A	XP_016877076.1:p.Ala489=
XM_017021588.1:c.1467G>A	XP_016877077.1:p.Ala489=
NM_001164749.2:c.1773G>A MANE Select	NP_001158221.1:p.Ala591=
NM_001165893.2:c.1683G>A	NP_001159365.1:p.Ala561=
NM_022123.3:c.1677G>A	NP_071406.1:p.Ala559=
NM_173159.3:c.1734G>A	NP_775182.1:p.Ala578=
NM_001394988.1:c.1728G>A	NP_001381917.1:p.Ala576=
NM_001394989.1:c.1674G>A	NP_001381918.1:p.Ala558=