Canonical Allele Identifier: CA389412363

Gene: NPAS3

Linked Data

• MyVariant Identifiers: chr14:g.34269294C>G (hg19) ; chr14:g.33800088C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800088C>G , CM000676.2:g.33800088C>G	GRCh38
NC_000014.8:g.34269294C>G , CM000676.1:g.34269294C>G	GRCh37
NC_000014.7:g.33339045C>G	NCBI36
NG_013036.1:g.865836C>G
NG_013036.2:g.865836C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1781C>G MANE Select	ENSP00000348460.4:p.Ser594Cys
ENST00000551634.6:c.1790C>G	ENSP00000448373.2:p.Ser597Cys
ENST00000680362.1:c.1681C>G
ENST00000681323.1:c.793+2507C>G
ENST00000346562.6:c.1685C>G	ENSP00000319610.5:p.Ser562Cys
ENST00000356141.8:c.1781C>G	ENSP00000348460.4:p.Ser594Cys
ENST00000357798.9:c.1742C>G	ENSP00000350446.5:p.Ser581Cys
ENST00000548645.5:c.1691C>G	ENSP00000448916.1:p.Ser564Cys
ENST00000551492.5:c.1796C>G	ENSP00000450392.1:p.Ser599Cys
ENST00000551634.5:c.1703C>G	ENSP00000448373.1:p.Ser568Cys
NM_001164749.1:c.1781C>G	NP_001158221.1:p.Ser594Cys
NM_001165893.1:c.1691C>G	NP_001159365.1:p.Ser564Cys
NM_022123.2:c.1685C>G	NP_071406.1:p.Ser562Cys
NM_173159.2:c.1742C>G	NP_775182.1:p.Ser581Cys
XM_005267991.2:c.1802C>G	XP_005268048.1:p.Ser601Cys
XM_005267992.2:c.1796C>G	XP_005268049.1:p.Ser599Cys
XM_005267993.2:c.1742C>G	XP_005268050.1:p.Ser581Cys
XM_011537067.1:c.1832C>G	XP_011535369.1:p.Ser611Cys
XM_011537068.1:c.1823C>G	XP_011535370.1:p.Ser608Cys
XM_011537069.1:c.1793C>G	XP_011535371.1:p.Ser598Cys
XM_011537070.1:c.1736C>G	XP_011535372.1:p.Ser579Cys
XM_011537071.1:c.1703C>G	XP_011535373.1:p.Ser568Cys
XM_011537072.1:c.1682C>G	XP_011535374.1:p.Ser561Cys
XM_011537073.1:c.1475C>G	XP_011535375.1:p.Ser492Cys
XM_011537074.1:c.1475C>G	XP_011535376.1:p.Ser492Cys
XM_005267991.3:c.1889C>G	XP_005268048.2:p.Ser630Cys
XM_005267992.3:c.1883C>G	XP_005268049.2:p.Ser628Cys
XM_011537067.2:c.1832C>G	XP_011535369.1:p.Ser611Cys
XM_011537069.2:c.1880C>G	XP_011535371.2:p.Ser627Cys
XM_011537070.2:c.1736C>G	XP_011535372.1:p.Ser579Cys
XM_011537071.2:c.1790C>G	XP_011535373.2:p.Ser597Cys
XM_011537072.2:c.1682C>G	XP_011535374.1:p.Ser561Cys
XM_017021582.1:c.1940C>G	XP_016877071.1:p.Ser647Cys
XM_017021583.1:c.1931C>G	XP_016877072.1:p.Ser644Cys
XM_017021584.1:c.1850C>G	XP_016877073.1:p.Ser617Cys
XM_017021585.1:c.1799C>G	XP_016877074.1:p.Ser600Cys
XM_017021586.1:c.1475C>G	XP_016877075.1:p.Ser492Cys
XM_017021587.1:c.1475C>G	XP_016877076.1:p.Ser492Cys
XM_017021588.1:c.1475C>G	XP_016877077.1:p.Ser492Cys
NM_001164749.2:c.1781C>G MANE Select	NP_001158221.1:p.Ser594Cys
NM_001165893.2:c.1691C>G	NP_001159365.1:p.Ser564Cys
NM_022123.3:c.1685C>G	NP_071406.1:p.Ser562Cys
NM_173159.3:c.1742C>G	NP_775182.1:p.Ser581Cys
NM_001394988.1:c.1736C>G	NP_001381917.1:p.Ser579Cys
NM_001394989.1:c.1682C>G	NP_001381918.1:p.Ser561Cys