Canonical Allele Identifier: CA389412341

Gene: NPAS3

Linked Data

• MyVariant Identifiers: chr14:g.34269290G>C (hg19) ; chr14:g.33800084G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800084G>C , CM000676.2:g.33800084G>C	GRCh38
NC_000014.8:g.34269290G>C , CM000676.1:g.34269290G>C	GRCh37
NC_000014.7:g.33339041G>C	NCBI36
NG_013036.1:g.865832G>C
NG_013036.2:g.865832G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1777G>C MANE Select	ENSP00000348460.4:p.Ala593Pro
ENST00000551634.6:c.1786G>C	ENSP00000448373.2:p.Ala596Pro
ENST00000680362.1:c.1677G>C
ENST00000681323.1:c.793+2503G>C
ENST00000346562.6:c.1681G>C	ENSP00000319610.5:p.Ala561Pro
ENST00000356141.8:c.1777G>C	ENSP00000348460.4:p.Ala593Pro
ENST00000357798.9:c.1738G>C	ENSP00000350446.5:p.Ala580Pro
ENST00000548645.5:c.1687G>C	ENSP00000448916.1:p.Ala563Pro
ENST00000551492.5:c.1792G>C	ENSP00000450392.1:p.Ala598Pro
ENST00000551634.5:c.1699G>C	ENSP00000448373.1:p.Ala567Pro
NM_001164749.1:c.1777G>C	NP_001158221.1:p.Ala593Pro
NM_001165893.1:c.1687G>C	NP_001159365.1:p.Ala563Pro
NM_022123.2:c.1681G>C	NP_071406.1:p.Ala561Pro
NM_173159.2:c.1738G>C	NP_775182.1:p.Ala580Pro
XM_005267991.2:c.1798G>C	XP_005268048.1:p.Ala600Pro
XM_005267992.2:c.1792G>C	XP_005268049.1:p.Ala598Pro
XM_005267993.2:c.1738G>C	XP_005268050.1:p.Ala580Pro
XM_011537067.1:c.1828G>C	XP_011535369.1:p.Ala610Pro
XM_011537068.1:c.1819G>C	XP_011535370.1:p.Ala607Pro
XM_011537069.1:c.1789G>C	XP_011535371.1:p.Ala597Pro
XM_011537070.1:c.1732G>C	XP_011535372.1:p.Ala578Pro
XM_011537071.1:c.1699G>C	XP_011535373.1:p.Ala567Pro
XM_011537072.1:c.1678G>C	XP_011535374.1:p.Ala560Pro
XM_011537073.1:c.1471G>C	XP_011535375.1:p.Ala491Pro
XM_011537074.1:c.1471G>C	XP_011535376.1:p.Ala491Pro
XM_005267991.3:c.1885G>C	XP_005268048.2:p.Ala629Pro
XM_005267992.3:c.1879G>C	XP_005268049.2:p.Ala627Pro
XM_011537067.2:c.1828G>C	XP_011535369.1:p.Ala610Pro
XM_011537069.2:c.1876G>C	XP_011535371.2:p.Ala626Pro
XM_011537070.2:c.1732G>C	XP_011535372.1:p.Ala578Pro
XM_011537071.2:c.1786G>C	XP_011535373.2:p.Ala596Pro
XM_011537072.2:c.1678G>C	XP_011535374.1:p.Ala560Pro
XM_017021582.1:c.1936G>C	XP_016877071.1:p.Ala646Pro
XM_017021583.1:c.1927G>C	XP_016877072.1:p.Ala643Pro
XM_017021584.1:c.1846G>C	XP_016877073.1:p.Ala616Pro
XM_017021585.1:c.1795G>C	XP_016877074.1:p.Ala599Pro
XM_017021586.1:c.1471G>C	XP_016877075.1:p.Ala491Pro
XM_017021587.1:c.1471G>C	XP_016877076.1:p.Ala491Pro
XM_017021588.1:c.1471G>C	XP_016877077.1:p.Ala491Pro
NM_001164749.2:c.1777G>C MANE Select	NP_001158221.1:p.Ala593Pro
NM_001165893.2:c.1687G>C	NP_001159365.1:p.Ala563Pro
NM_022123.3:c.1681G>C	NP_071406.1:p.Ala561Pro
NM_173159.3:c.1738G>C	NP_775182.1:p.Ala580Pro
NM_001394988.1:c.1732G>C	NP_001381917.1:p.Ala578Pro
NM_001394989.1:c.1678G>C	NP_001381918.1:p.Ala560Pro