Canonical Allele Identifier: CA389413078

Gene: NPAS3

Linked Data

• dbSNP Id: rs1457191142
• gnomAD v2: 14-34269428-T-A
• MyVariant Identifiers: chr14:g.34269428T>A (hg19) ; chr14:g.33800222T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800222T>A , CM000676.2:g.33800222T>A	GRCh38
NC_000014.8:g.34269428T>A , CM000676.1:g.34269428T>A	GRCh37
NC_000014.7:g.33339179T>A	NCBI36
NG_013036.1:g.865970T>A
NG_013036.2:g.865970T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1915T>A MANE Select	ENSP00000348460.4:p.Ser639Thr
ENST00000551634.6:c.1924T>A	ENSP00000448373.2:p.Ser642Thr
ENST00000680362.1:c.1815T>A
ENST00000681323.1:c.793+2641T>A
ENST00000346562.6:c.1819T>A	ENSP00000319610.5:p.Ser607Thr
ENST00000356141.8:c.1915T>A	ENSP00000348460.4:p.Ser639Thr
ENST00000357798.9:c.1876T>A	ENSP00000350446.5:p.Ser626Thr
ENST00000548645.5:c.1825T>A	ENSP00000448916.1:p.Ser609Thr
ENST00000551492.5:c.1930T>A	ENSP00000450392.1:p.Ser644Thr
ENST00000551634.5:c.1837T>A	ENSP00000448373.1:p.Ser613Thr
NM_001164749.1:c.1915T>A	NP_001158221.1:p.Ser639Thr
NM_001165893.1:c.1825T>A	NP_001159365.1:p.Ser609Thr
NM_022123.2:c.1819T>A	NP_071406.1:p.Ser607Thr
NM_173159.2:c.1876T>A	NP_775182.1:p.Ser626Thr
XM_005267991.2:c.1936T>A	XP_005268048.1:p.Ser646Thr
XM_005267992.2:c.1930T>A	XP_005268049.1:p.Ser644Thr
XM_005267993.2:c.1876T>A	XP_005268050.1:p.Ser626Thr
XM_011537067.1:c.1966T>A	XP_011535369.1:p.Ser656Thr
XM_011537068.1:c.1957T>A	XP_011535370.1:p.Ser653Thr
XM_011537069.1:c.1927T>A	XP_011535371.1:p.Ser643Thr
XM_011537070.1:c.1870T>A	XP_011535372.1:p.Ser624Thr
XM_011537071.1:c.1837T>A	XP_011535373.1:p.Ser613Thr
XM_011537072.1:c.1816T>A	XP_011535374.1:p.Ser606Thr
XM_011537073.1:c.1609T>A	XP_011535375.1:p.Ser537Thr
XM_011537074.1:c.1609T>A	XP_011535376.1:p.Ser537Thr
XM_005267991.3:c.2023T>A	XP_005268048.2:p.Ser675Thr
XM_005267992.3:c.2017T>A	XP_005268049.2:p.Ser673Thr
XM_011537067.2:c.1966T>A	XP_011535369.1:p.Ser656Thr
XM_011537069.2:c.2014T>A	XP_011535371.2:p.Ser672Thr
XM_011537070.2:c.1870T>A	XP_011535372.1:p.Ser624Thr
XM_011537071.2:c.1924T>A	XP_011535373.2:p.Ser642Thr
XM_011537072.2:c.1816T>A	XP_011535374.1:p.Ser606Thr
XM_017021582.1:c.2074T>A	XP_016877071.1:p.Ser692Thr
XM_017021583.1:c.2065T>A	XP_016877072.1:p.Ser689Thr
XM_017021584.1:c.1984T>A	XP_016877073.1:p.Ser662Thr
XM_017021585.1:c.1933T>A	XP_016877074.1:p.Ser645Thr
XM_017021586.1:c.1609T>A	XP_016877075.1:p.Ser537Thr
XM_017021587.1:c.1609T>A	XP_016877076.1:p.Ser537Thr
XM_017021588.1:c.1609T>A	XP_016877077.1:p.Ser537Thr
NM_001164749.2:c.1915T>A MANE Select	NP_001158221.1:p.Ser639Thr
NM_001165893.2:c.1825T>A	NP_001159365.1:p.Ser609Thr
NM_022123.3:c.1819T>A	NP_071406.1:p.Ser607Thr
NM_173159.3:c.1876T>A	NP_775182.1:p.Ser626Thr
NM_001394988.1:c.1870T>A	NP_001381917.1:p.Ser624Thr
NM_001394989.1:c.1816T>A	NP_001381918.1:p.Ser606Thr