Canonical Allele Identifier: CA389412265

Gene: NPAS3

Linked Data

• MyVariant Identifiers: chr14:g.34269278G>A (hg19) ; chr14:g.33800072G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800072G>A , CM000676.2:g.33800072G>A	GRCh38
NC_000014.8:g.34269278G>A , CM000676.1:g.34269278G>A	GRCh37
NC_000014.7:g.33339029G>A	NCBI36
NG_013036.1:g.865820G>A
NG_013036.2:g.865820G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1765G>A MANE Select	ENSP00000348460.4:p.Ala589Thr
ENST00000551634.6:c.1774G>A	ENSP00000448373.2:p.Ala592Thr
ENST00000680362.1:c.1665G>A
ENST00000681323.1:c.793+2491G>A
ENST00000346562.6:c.1669G>A	ENSP00000319610.5:p.Ala557Thr
ENST00000356141.8:c.1765G>A	ENSP00000348460.4:p.Ala589Thr
ENST00000357798.9:c.1726G>A	ENSP00000350446.5:p.Ala576Thr
ENST00000548645.5:c.1675G>A	ENSP00000448916.1:p.Ala559Thr
ENST00000551492.5:c.1780G>A	ENSP00000450392.1:p.Ala594Thr
ENST00000551634.5:c.1687G>A	ENSP00000448373.1:p.Ala563Thr
NM_001164749.1:c.1765G>A	NP_001158221.1:p.Ala589Thr
NM_001165893.1:c.1675G>A	NP_001159365.1:p.Ala559Thr
NM_022123.2:c.1669G>A	NP_071406.1:p.Ala557Thr
NM_173159.2:c.1726G>A	NP_775182.1:p.Ala576Thr
XM_005267991.2:c.1786G>A	XP_005268048.1:p.Ala596Thr
XM_005267992.2:c.1780G>A	XP_005268049.1:p.Ala594Thr
XM_005267993.2:c.1726G>A	XP_005268050.1:p.Ala576Thr
XM_011537067.1:c.1816G>A	XP_011535369.1:p.Ala606Thr
XM_011537068.1:c.1807G>A	XP_011535370.1:p.Ala603Thr
XM_011537069.1:c.1777G>A	XP_011535371.1:p.Ala593Thr
XM_011537070.1:c.1720G>A	XP_011535372.1:p.Ala574Thr
XM_011537071.1:c.1687G>A	XP_011535373.1:p.Ala563Thr
XM_011537072.1:c.1666G>A	XP_011535374.1:p.Ala556Thr
XM_011537073.1:c.1459G>A	XP_011535375.1:p.Ala487Thr
XM_011537074.1:c.1459G>A	XP_011535376.1:p.Ala487Thr
XM_005267991.3:c.1873G>A	XP_005268048.2:p.Ala625Thr
XM_005267992.3:c.1867G>A	XP_005268049.2:p.Ala623Thr
XM_011537067.2:c.1816G>A	XP_011535369.1:p.Ala606Thr
XM_011537069.2:c.1864G>A	XP_011535371.2:p.Ala622Thr
XM_011537070.2:c.1720G>A	XP_011535372.1:p.Ala574Thr
XM_011537071.2:c.1774G>A	XP_011535373.2:p.Ala592Thr
XM_011537072.2:c.1666G>A	XP_011535374.1:p.Ala556Thr
XM_017021582.1:c.1924G>A	XP_016877071.1:p.Ala642Thr
XM_017021583.1:c.1915G>A	XP_016877072.1:p.Ala639Thr
XM_017021584.1:c.1834G>A	XP_016877073.1:p.Ala612Thr
XM_017021585.1:c.1783G>A	XP_016877074.1:p.Ala595Thr
XM_017021586.1:c.1459G>A	XP_016877075.1:p.Ala487Thr
XM_017021587.1:c.1459G>A	XP_016877076.1:p.Ala487Thr
XM_017021588.1:c.1459G>A	XP_016877077.1:p.Ala487Thr
NM_001164749.2:c.1765G>A MANE Select	NP_001158221.1:p.Ala589Thr
NM_001165893.2:c.1675G>A	NP_001159365.1:p.Ala559Thr
NM_022123.3:c.1669G>A	NP_071406.1:p.Ala557Thr
NM_173159.3:c.1726G>A	NP_775182.1:p.Ala576Thr
NM_001394988.1:c.1720G>A	NP_001381917.1:p.Ala574Thr
NM_001394989.1:c.1666G>A	NP_001381918.1:p.Ala556Thr