Canonical Allele Identifier: CA486092875

Gene: NPAS3

Linked Data

• gnomAD v4: 14-33800185-G-A
• MyVariant Identifiers: chr14:g.34269391G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800185G>A , CM000676.2:g.33800185G>A	GRCh38
NC_000014.8:g.34269391G>A , CM000676.1:g.34269391G>A	GRCh37
NC_000014.7:g.33339142G>A	NCBI36
NG_013036.1:g.865933G>A
NG_013036.2:g.865933G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1878G>A MANE Select	ENSP00000348460.4:p.Leu626=
ENST00000551634.6:c.1887G>A	ENSP00000448373.2:p.Leu629=
ENST00000680362.1:c.1778G>A
ENST00000681323.1:c.793+2604G>A
ENST00000346562.6:c.1782G>A	ENSP00000319610.5:p.Leu594=
ENST00000356141.8:c.1878G>A	ENSP00000348460.4:p.Leu626=
ENST00000357798.9:c.1839G>A	ENSP00000350446.5:p.Leu613=
ENST00000548645.5:c.1788G>A	ENSP00000448916.1:p.Leu596=
ENST00000551492.5:c.1893G>A	ENSP00000450392.1:p.Leu631=
ENST00000551634.5:c.1800G>A	ENSP00000448373.1:p.Leu600=
NM_001164749.1:c.1878G>A	NP_001158221.1:p.Leu626=
NM_001165893.1:c.1788G>A	NP_001159365.1:p.Leu596=
NM_022123.2:c.1782G>A	NP_071406.1:p.Leu594=
NM_173159.2:c.1839G>A	NP_775182.1:p.Leu613=
XM_005267991.2:c.1899G>A	XP_005268048.1:p.Leu633=
XM_005267992.2:c.1893G>A	XP_005268049.1:p.Leu631=
XM_005267993.2:c.1839G>A	XP_005268050.1:p.Leu613=
XM_011537067.1:c.1929G>A	XP_011535369.1:p.Leu643=
XM_011537068.1:c.1920G>A	XP_011535370.1:p.Leu640=
XM_011537069.1:c.1890G>A	XP_011535371.1:p.Leu630=
XM_011537070.1:c.1833G>A	XP_011535372.1:p.Leu611=
XM_011537071.1:c.1800G>A	XP_011535373.1:p.Leu600=
XM_011537072.1:c.1779G>A	XP_011535374.1:p.Leu593=
XM_011537073.1:c.1572G>A	XP_011535375.1:p.Leu524=
XM_011537074.1:c.1572G>A	XP_011535376.1:p.Leu524=
XM_005267991.3:c.1986G>A	XP_005268048.2:p.Leu662=
XM_005267992.3:c.1980G>A	XP_005268049.2:p.Leu660=
XM_011537067.2:c.1929G>A	XP_011535369.1:p.Leu643=
XM_011537069.2:c.1977G>A	XP_011535371.2:p.Leu659=
XM_011537070.2:c.1833G>A	XP_011535372.1:p.Leu611=
XM_011537071.2:c.1887G>A	XP_011535373.2:p.Leu629=
XM_011537072.2:c.1779G>A	XP_011535374.1:p.Leu593=
XM_017021582.1:c.2037G>A	XP_016877071.1:p.Leu679=
XM_017021583.1:c.2028G>A	XP_016877072.1:p.Leu676=
XM_017021584.1:c.1947G>A	XP_016877073.1:p.Leu649=
XM_017021585.1:c.1896G>A	XP_016877074.1:p.Leu632=
XM_017021586.1:c.1572G>A	XP_016877075.1:p.Leu524=
XM_017021587.1:c.1572G>A	XP_016877076.1:p.Leu524=
XM_017021588.1:c.1572G>A	XP_016877077.1:p.Leu524=
NM_001164749.2:c.1878G>A MANE Select	NP_001158221.1:p.Leu626=
NM_001165893.2:c.1788G>A	NP_001159365.1:p.Leu596=
NM_022123.3:c.1782G>A	NP_071406.1:p.Leu594=
NM_173159.3:c.1839G>A	NP_775182.1:p.Leu613=
NM_001394988.1:c.1833G>A	NP_001381917.1:p.Leu611=
NM_001394989.1:c.1779G>A	NP_001381918.1:p.Leu593=