Canonical Allele Identifier: CA486092901

Gene: NPAS3

Linked Data

• gnomAD v4: 14-33800200-G-A
• MyVariant Identifiers: chr14:g.34269406G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800200G>A , CM000676.2:g.33800200G>A	GRCh38
NC_000014.8:g.34269406G>A , CM000676.1:g.34269406G>A	GRCh37
NC_000014.7:g.33339157G>A	NCBI36
NG_013036.1:g.865948G>A
NG_013036.2:g.865948G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1893G>A MANE Select	ENSP00000348460.4:p.Val631=
ENST00000551634.6:c.1902G>A	ENSP00000448373.2:p.Val634=
ENST00000680362.1:c.1793G>A
ENST00000681323.1:c.793+2619G>A
ENST00000346562.6:c.1797G>A	ENSP00000319610.5:p.Val599=
ENST00000356141.8:c.1893G>A	ENSP00000348460.4:p.Val631=
ENST00000357798.9:c.1854G>A	ENSP00000350446.5:p.Val618=
ENST00000548645.5:c.1803G>A	ENSP00000448916.1:p.Val601=
ENST00000551492.5:c.1908G>A	ENSP00000450392.1:p.Val636=
ENST00000551634.5:c.1815G>A	ENSP00000448373.1:p.Val605=
NM_001164749.1:c.1893G>A	NP_001158221.1:p.Val631=
NM_001165893.1:c.1803G>A	NP_001159365.1:p.Val601=
NM_022123.2:c.1797G>A	NP_071406.1:p.Val599=
NM_173159.2:c.1854G>A	NP_775182.1:p.Val618=
XM_005267991.2:c.1914G>A	XP_005268048.1:p.Val638=
XM_005267992.2:c.1908G>A	XP_005268049.1:p.Val636=
XM_005267993.2:c.1854G>A	XP_005268050.1:p.Val618=
XM_011537067.1:c.1944G>A	XP_011535369.1:p.Val648=
XM_011537068.1:c.1935G>A	XP_011535370.1:p.Val645=
XM_011537069.1:c.1905G>A	XP_011535371.1:p.Val635=
XM_011537070.1:c.1848G>A	XP_011535372.1:p.Val616=
XM_011537071.1:c.1815G>A	XP_011535373.1:p.Val605=
XM_011537072.1:c.1794G>A	XP_011535374.1:p.Val598=
XM_011537073.1:c.1587G>A	XP_011535375.1:p.Val529=
XM_011537074.1:c.1587G>A	XP_011535376.1:p.Val529=
XM_005267991.3:c.2001G>A	XP_005268048.2:p.Val667=
XM_005267992.3:c.1995G>A	XP_005268049.2:p.Val665=
XM_011537067.2:c.1944G>A	XP_011535369.1:p.Val648=
XM_011537069.2:c.1992G>A	XP_011535371.2:p.Val664=
XM_011537070.2:c.1848G>A	XP_011535372.1:p.Val616=
XM_011537071.2:c.1902G>A	XP_011535373.2:p.Val634=
XM_011537072.2:c.1794G>A	XP_011535374.1:p.Val598=
XM_017021582.1:c.2052G>A	XP_016877071.1:p.Val684=
XM_017021583.1:c.2043G>A	XP_016877072.1:p.Val681=
XM_017021584.1:c.1962G>A	XP_016877073.1:p.Val654=
XM_017021585.1:c.1911G>A	XP_016877074.1:p.Val637=
XM_017021586.1:c.1587G>A	XP_016877075.1:p.Val529=
XM_017021587.1:c.1587G>A	XP_016877076.1:p.Val529=
XM_017021588.1:c.1587G>A	XP_016877077.1:p.Val529=
NM_001164749.2:c.1893G>A MANE Select	NP_001158221.1:p.Val631=
NM_001165893.2:c.1803G>A	NP_001159365.1:p.Val601=
NM_022123.3:c.1797G>A	NP_071406.1:p.Val599=
NM_173159.3:c.1854G>A	NP_775182.1:p.Val618=
NM_001394988.1:c.1848G>A	NP_001381917.1:p.Val616=
NM_001394989.1:c.1794G>A	NP_001381918.1:p.Val598=