Canonical Allele Identifier: CA389413745

Gene: NPAS3

Linked Data

• MyVariant Identifiers: chr14:g.34269575T>G (hg19) ; chr14:g.33800369T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800369T>G , CM000676.2:g.33800369T>G	GRCh38
NC_000014.8:g.34269575T>G , CM000676.1:g.34269575T>G	GRCh37
NC_000014.7:g.33339326T>G	NCBI36
NG_013036.1:g.866117T>G
NG_013036.2:g.866117T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.2062T>G MANE Select	ENSP00000348460.4:p.Ser688Ala
ENST00000551634.6:c.2071T>G	ENSP00000448373.2:p.Ser691Ala
ENST00000680362.1:c.1962T>G
ENST00000681323.1:c.793+2788T>G
ENST00000346562.6:c.1966T>G	ENSP00000319610.5:p.Ser656Ala
ENST00000356141.8:c.2062T>G	ENSP00000348460.4:p.Ser688Ala
ENST00000357798.9:c.2023T>G	ENSP00000350446.5:p.Ser675Ala
ENST00000548645.5:c.1972T>G	ENSP00000448916.1:p.Ser658Ala
ENST00000551492.5:c.2077T>G	ENSP00000450392.1:p.Ser693Ala
ENST00000551634.5:c.1984T>G	ENSP00000448373.1:p.Ser662Ala
NM_001164749.1:c.2062T>G	NP_001158221.1:p.Ser688Ala
NM_001165893.1:c.1972T>G	NP_001159365.1:p.Ser658Ala
NM_022123.2:c.1966T>G	NP_071406.1:p.Ser656Ala
NM_173159.2:c.2023T>G	NP_775182.1:p.Ser675Ala
XM_005267991.2:c.2083T>G	XP_005268048.1:p.Ser695Ala
XM_005267992.2:c.2077T>G	XP_005268049.1:p.Ser693Ala
XM_005267993.2:c.2023T>G	XP_005268050.1:p.Ser675Ala
XM_011537067.1:c.2113T>G	XP_011535369.1:p.Ser705Ala
XM_011537068.1:c.2104T>G	XP_011535370.1:p.Ser702Ala
XM_011537069.1:c.2074T>G	XP_011535371.1:p.Ser692Ala
XM_011537070.1:c.2017T>G	XP_011535372.1:p.Ser673Ala
XM_011537071.1:c.1984T>G	XP_011535373.1:p.Ser662Ala
XM_011537072.1:c.1963T>G	XP_011535374.1:p.Ser655Ala
XM_011537073.1:c.1756T>G	XP_011535375.1:p.Ser586Ala
XM_011537074.1:c.1756T>G	XP_011535376.1:p.Ser586Ala
XM_005267991.3:c.2170T>G	XP_005268048.2:p.Ser724Ala
XM_005267992.3:c.2164T>G	XP_005268049.2:p.Ser722Ala
XM_011537067.2:c.2113T>G	XP_011535369.1:p.Ser705Ala
XM_011537069.2:c.2161T>G	XP_011535371.2:p.Ser721Ala
XM_011537070.2:c.2017T>G	XP_011535372.1:p.Ser673Ala
XM_011537071.2:c.2071T>G	XP_011535373.2:p.Ser691Ala
XM_011537072.2:c.1963T>G	XP_011535374.1:p.Ser655Ala
XM_017021582.1:c.2221T>G	XP_016877071.1:p.Ser741Ala
XM_017021583.1:c.2212T>G	XP_016877072.1:p.Ser738Ala
XM_017021584.1:c.2131T>G	XP_016877073.1:p.Ser711Ala
XM_017021585.1:c.2080T>G	XP_016877074.1:p.Ser694Ala
XM_017021586.1:c.1756T>G	XP_016877075.1:p.Ser586Ala
XM_017021587.1:c.1756T>G	XP_016877076.1:p.Ser586Ala
XM_017021588.1:c.1756T>G	XP_016877077.1:p.Ser586Ala
NM_001164749.2:c.2062T>G MANE Select	NP_001158221.1:p.Ser688Ala
NM_001165893.2:c.1972T>G	NP_001159365.1:p.Ser658Ala
NM_022123.3:c.1966T>G	NP_071406.1:p.Ser656Ala
NM_173159.3:c.2023T>G	NP_775182.1:p.Ser675Ala
NM_001394988.1:c.2017T>G	NP_001381917.1:p.Ser673Ala
NM_001394989.1:c.1963T>G	NP_001381918.1:p.Ser655Ala