Canonical Allele Identifier: CA389412719

Gene: NPAS3

Linked Data

• MyVariant Identifiers: chr14:g.34269347G>T (hg19) ; chr14:g.33800141G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800141G>T , CM000676.2:g.33800141G>T	GRCh38
NC_000014.8:g.34269347G>T , CM000676.1:g.34269347G>T	GRCh37
NC_000014.7:g.33339098G>T	NCBI36
NG_013036.1:g.865889G>T
NG_013036.2:g.865889G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1834G>T MANE Select	ENSP00000348460.4:p.Ala612Ser
ENST00000551634.6:c.1843G>T	ENSP00000448373.2:p.Ala615Ser
ENST00000680362.1:c.1734G>T
ENST00000681323.1:c.793+2560G>T
ENST00000346562.6:c.1738G>T	ENSP00000319610.5:p.Ala580Ser
ENST00000356141.8:c.1834G>T	ENSP00000348460.4:p.Ala612Ser
ENST00000357798.9:c.1795G>T	ENSP00000350446.5:p.Ala599Ser
ENST00000548645.5:c.1744G>T	ENSP00000448916.1:p.Ala582Ser
ENST00000551492.5:c.1849G>T	ENSP00000450392.1:p.Ala617Ser
ENST00000551634.5:c.1756G>T	ENSP00000448373.1:p.Ala586Ser
NM_001164749.1:c.1834G>T	NP_001158221.1:p.Ala612Ser
NM_001165893.1:c.1744G>T	NP_001159365.1:p.Ala582Ser
NM_022123.2:c.1738G>T	NP_071406.1:p.Ala580Ser
NM_173159.2:c.1795G>T	NP_775182.1:p.Ala599Ser
XM_005267991.2:c.1855G>T	XP_005268048.1:p.Ala619Ser
XM_005267992.2:c.1849G>T	XP_005268049.1:p.Ala617Ser
XM_005267993.2:c.1795G>T	XP_005268050.1:p.Ala599Ser
XM_011537067.1:c.1885G>T	XP_011535369.1:p.Ala629Ser
XM_011537068.1:c.1876G>T	XP_011535370.1:p.Ala626Ser
XM_011537069.1:c.1846G>T	XP_011535371.1:p.Ala616Ser
XM_011537070.1:c.1789G>T	XP_011535372.1:p.Ala597Ser
XM_011537071.1:c.1756G>T	XP_011535373.1:p.Ala586Ser
XM_011537072.1:c.1735G>T	XP_011535374.1:p.Ala579Ser
XM_011537073.1:c.1528G>T	XP_011535375.1:p.Ala510Ser
XM_011537074.1:c.1528G>T	XP_011535376.1:p.Ala510Ser
XM_005267991.3:c.1942G>T	XP_005268048.2:p.Ala648Ser
XM_005267992.3:c.1936G>T	XP_005268049.2:p.Ala646Ser
XM_011537067.2:c.1885G>T	XP_011535369.1:p.Ala629Ser
XM_011537069.2:c.1933G>T	XP_011535371.2:p.Ala645Ser
XM_011537070.2:c.1789G>T	XP_011535372.1:p.Ala597Ser
XM_011537071.2:c.1843G>T	XP_011535373.2:p.Ala615Ser
XM_011537072.2:c.1735G>T	XP_011535374.1:p.Ala579Ser
XM_017021582.1:c.1993G>T	XP_016877071.1:p.Ala665Ser
XM_017021583.1:c.1984G>T	XP_016877072.1:p.Ala662Ser
XM_017021584.1:c.1903G>T	XP_016877073.1:p.Ala635Ser
XM_017021585.1:c.1852G>T	XP_016877074.1:p.Ala618Ser
XM_017021586.1:c.1528G>T	XP_016877075.1:p.Ala510Ser
XM_017021587.1:c.1528G>T	XP_016877076.1:p.Ala510Ser
XM_017021588.1:c.1528G>T	XP_016877077.1:p.Ala510Ser
NM_001164749.2:c.1834G>T MANE Select	NP_001158221.1:p.Ala612Ser
NM_001165893.2:c.1744G>T	NP_001159365.1:p.Ala582Ser
NM_022123.3:c.1738G>T	NP_071406.1:p.Ala580Ser
NM_173159.3:c.1795G>T	NP_775182.1:p.Ala599Ser
NM_001394988.1:c.1789G>T	NP_001381917.1:p.Ala597Ser
NM_001394989.1:c.1735G>T	NP_001381918.1:p.Ala579Ser