Canonical Allele Identifier: CA486092861

Gene: NPAS3

Linked Data

• gnomAD v4: 14-33800173-C-T
• MyVariant Identifiers: chr14:g.34269379C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800173C>T , CM000676.2:g.33800173C>T	GRCh38
NC_000014.8:g.34269379C>T , CM000676.1:g.34269379C>T	GRCh37
NC_000014.7:g.33339130C>T	NCBI36
NG_013036.1:g.865921C>T
NG_013036.2:g.865921C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1866C>T MANE Select	ENSP00000348460.4:p.Ser622=
ENST00000551634.6:c.1875C>T	ENSP00000448373.2:p.Ser625=
ENST00000680362.1:c.1766C>T
ENST00000681323.1:c.793+2592C>T
ENST00000346562.6:c.1770C>T	ENSP00000319610.5:p.Ser590=
ENST00000356141.8:c.1866C>T	ENSP00000348460.4:p.Ser622=
ENST00000357798.9:c.1827C>T	ENSP00000350446.5:p.Ser609=
ENST00000548645.5:c.1776C>T	ENSP00000448916.1:p.Ser592=
ENST00000551492.5:c.1881C>T	ENSP00000450392.1:p.Ser627=
ENST00000551634.5:c.1788C>T	ENSP00000448373.1:p.Ser596=
NM_001164749.1:c.1866C>T	NP_001158221.1:p.Ser622=
NM_001165893.1:c.1776C>T	NP_001159365.1:p.Ser592=
NM_022123.2:c.1770C>T	NP_071406.1:p.Ser590=
NM_173159.2:c.1827C>T	NP_775182.1:p.Ser609=
XM_005267991.2:c.1887C>T	XP_005268048.1:p.Ser629=
XM_005267992.2:c.1881C>T	XP_005268049.1:p.Ser627=
XM_005267993.2:c.1827C>T	XP_005268050.1:p.Ser609=
XM_011537067.1:c.1917C>T	XP_011535369.1:p.Ser639=
XM_011537068.1:c.1908C>T	XP_011535370.1:p.Ser636=
XM_011537069.1:c.1878C>T	XP_011535371.1:p.Ser626=
XM_011537070.1:c.1821C>T	XP_011535372.1:p.Ser607=
XM_011537071.1:c.1788C>T	XP_011535373.1:p.Ser596=
XM_011537072.1:c.1767C>T	XP_011535374.1:p.Ser589=
XM_011537073.1:c.1560C>T	XP_011535375.1:p.Ser520=
XM_011537074.1:c.1560C>T	XP_011535376.1:p.Ser520=
XM_005267991.3:c.1974C>T	XP_005268048.2:p.Ser658=
XM_005267992.3:c.1968C>T	XP_005268049.2:p.Ser656=
XM_011537067.2:c.1917C>T	XP_011535369.1:p.Ser639=
XM_011537069.2:c.1965C>T	XP_011535371.2:p.Ser655=
XM_011537070.2:c.1821C>T	XP_011535372.1:p.Ser607=
XM_011537071.2:c.1875C>T	XP_011535373.2:p.Ser625=
XM_011537072.2:c.1767C>T	XP_011535374.1:p.Ser589=
XM_017021582.1:c.2025C>T	XP_016877071.1:p.Ser675=
XM_017021583.1:c.2016C>T	XP_016877072.1:p.Ser672=
XM_017021584.1:c.1935C>T	XP_016877073.1:p.Ser645=
XM_017021585.1:c.1884C>T	XP_016877074.1:p.Ser628=
XM_017021586.1:c.1560C>T	XP_016877075.1:p.Ser520=
XM_017021587.1:c.1560C>T	XP_016877076.1:p.Ser520=
XM_017021588.1:c.1560C>T	XP_016877077.1:p.Ser520=
NM_001164749.2:c.1866C>T MANE Select	NP_001158221.1:p.Ser622=
NM_001165893.2:c.1776C>T	NP_001159365.1:p.Ser592=
NM_022123.3:c.1770C>T	NP_071406.1:p.Ser590=
NM_173159.3:c.1827C>T	NP_775182.1:p.Ser609=
NM_001394988.1:c.1821C>T	NP_001381917.1:p.Ser607=
NM_001394989.1:c.1767C>T	NP_001381918.1:p.Ser589=