Canonical Allele Identifier: CA389412364

Gene: NPAS3

Linked Data

• gnomAD v4: 14-33800088-C-A
• MyVariant Identifiers: chr14:g.34269294C>A (hg19) ; chr14:g.33800088C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1781C>A MANE Select	ENSP00000348460.4:p.Ser594Tyr
ENST00000551634.6:c.1790C>A	ENSP00000448373.2:p.Ser597Tyr
ENST00000680362.1:c.1681C>A
ENST00000681323.1:c.793+2507C>A
ENST00000346562.6:c.1685C>A	ENSP00000319610.5:p.Ser562Tyr
ENST00000356141.8:c.1781C>A	ENSP00000348460.4:p.Ser594Tyr
ENST00000357798.9:c.1742C>A	ENSP00000350446.5:p.Ser581Tyr
ENST00000548645.5:c.1691C>A	ENSP00000448916.1:p.Ser564Tyr
ENST00000551492.5:c.1796C>A	ENSP00000450392.1:p.Ser599Tyr
ENST00000551634.5:c.1703C>A	ENSP00000448373.1:p.Ser568Tyr
NM_001164749.1:c.1781C>A	NP_001158221.1:p.Ser594Tyr
NM_001165893.1:c.1691C>A	NP_001159365.1:p.Ser564Tyr
NM_022123.2:c.1685C>A	NP_071406.1:p.Ser562Tyr
NM_173159.2:c.1742C>A	NP_775182.1:p.Ser581Tyr
XM_005267991.2:c.1802C>A	XP_005268048.1:p.Ser601Tyr
XM_005267992.2:c.1796C>A	XP_005268049.1:p.Ser599Tyr
XM_005267993.2:c.1742C>A	XP_005268050.1:p.Ser581Tyr
XM_011537067.1:c.1832C>A	XP_011535369.1:p.Ser611Tyr
XM_011537068.1:c.1823C>A	XP_011535370.1:p.Ser608Tyr
XM_011537069.1:c.1793C>A	XP_011535371.1:p.Ser598Tyr
XM_011537070.1:c.1736C>A	XP_011535372.1:p.Ser579Tyr
XM_011537071.1:c.1703C>A	XP_011535373.1:p.Ser568Tyr
XM_011537072.1:c.1682C>A	XP_011535374.1:p.Ser561Tyr
XM_011537073.1:c.1475C>A	XP_011535375.1:p.Ser492Tyr
XM_011537074.1:c.1475C>A	XP_011535376.1:p.Ser492Tyr
XM_005267991.3:c.1889C>A	XP_005268048.2:p.Ser630Tyr
XM_005267992.3:c.1883C>A	XP_005268049.2:p.Ser628Tyr
XM_011537067.2:c.1832C>A	XP_011535369.1:p.Ser611Tyr
XM_011537069.2:c.1880C>A	XP_011535371.2:p.Ser627Tyr
XM_011537070.2:c.1736C>A	XP_011535372.1:p.Ser579Tyr
XM_011537071.2:c.1790C>A	XP_011535373.2:p.Ser597Tyr
XM_011537072.2:c.1682C>A	XP_011535374.1:p.Ser561Tyr
XM_017021582.1:c.1940C>A	XP_016877071.1:p.Ser647Tyr
XM_017021583.1:c.1931C>A	XP_016877072.1:p.Ser644Tyr
XM_017021584.1:c.1850C>A	XP_016877073.1:p.Ser617Tyr
XM_017021585.1:c.1799C>A	XP_016877074.1:p.Ser600Tyr
XM_017021586.1:c.1475C>A	XP_016877075.1:p.Ser492Tyr
XM_017021587.1:c.1475C>A	XP_016877076.1:p.Ser492Tyr
XM_017021588.1:c.1475C>A	XP_016877077.1:p.Ser492Tyr
NM_001164749.2:c.1781C>A MANE Select	NP_001158221.1:p.Ser594Tyr
NM_001165893.2:c.1691C>A	NP_001159365.1:p.Ser564Tyr
NM_022123.3:c.1685C>A	NP_071406.1:p.Ser562Tyr
NM_173159.3:c.1742C>A	NP_775182.1:p.Ser581Tyr
NM_001394988.1:c.1736C>A	NP_001381917.1:p.Ser579Tyr
NM_001394989.1:c.1682C>A	NP_001381918.1:p.Ser561Tyr