Canonical Allele Identifier: CA7150908

Gene: NPAS3

Linked Data

• dbSNP Id: rs754303724
• ExAC: 14:34269426 C / A
• gnomAD v2: 14-34269426-C-A
• gnomAD v4: 14-33800220-C-A
• MyVariant Identifiers: chr14:g.34269426C>A (hg19) ; chr14:g.33800220C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800220C>A , CM000676.2:g.33800220C>A	GRCh38
NC_000014.8:g.34269426C>A , CM000676.1:g.34269426C>A	GRCh37
NC_000014.7:g.33339177C>A	NCBI36
NG_013036.1:g.865968C>A
NG_013036.2:g.865968C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1913C>A MANE Select	ENSP00000348460.4:p.Ser638Tyr
ENST00000551634.6:c.1922C>A	ENSP00000448373.2:p.Ser641Tyr
ENST00000680362.1:c.1813C>A
ENST00000681323.1:c.793+2639C>A
ENST00000346562.6:c.1817C>A	ENSP00000319610.5:p.Ser606Tyr
ENST00000356141.8:c.1913C>A	ENSP00000348460.4:p.Ser638Tyr
ENST00000357798.9:c.1874C>A	ENSP00000350446.5:p.Ser625Tyr
ENST00000548645.5:c.1823C>A	ENSP00000448916.1:p.Ser608Tyr
ENST00000551492.5:c.1928C>A	ENSP00000450392.1:p.Ser643Tyr
ENST00000551634.5:c.1835C>A	ENSP00000448373.1:p.Ser612Tyr
NM_001164749.1:c.1913C>A	NP_001158221.1:p.Ser638Tyr
NM_001165893.1:c.1823C>A	NP_001159365.1:p.Ser608Tyr
NM_022123.2:c.1817C>A	NP_071406.1:p.Ser606Tyr
NM_173159.2:c.1874C>A	NP_775182.1:p.Ser625Tyr
XM_005267991.2:c.1934C>A	XP_005268048.1:p.Ser645Tyr
XM_005267992.2:c.1928C>A	XP_005268049.1:p.Ser643Tyr
XM_005267993.2:c.1874C>A	XP_005268050.1:p.Ser625Tyr
XM_011537067.1:c.1964C>A	XP_011535369.1:p.Ser655Tyr
XM_011537068.1:c.1955C>A	XP_011535370.1:p.Ser652Tyr
XM_011537069.1:c.1925C>A	XP_011535371.1:p.Ser642Tyr
XM_011537070.1:c.1868C>A	XP_011535372.1:p.Ser623Tyr
XM_011537071.1:c.1835C>A	XP_011535373.1:p.Ser612Tyr
XM_011537072.1:c.1814C>A	XP_011535374.1:p.Ser605Tyr
XM_011537073.1:c.1607C>A	XP_011535375.1:p.Ser536Tyr
XM_011537074.1:c.1607C>A	XP_011535376.1:p.Ser536Tyr
XM_005267991.3:c.2021C>A	XP_005268048.2:p.Ser674Tyr
XM_005267992.3:c.2015C>A	XP_005268049.2:p.Ser672Tyr
XM_011537067.2:c.1964C>A	XP_011535369.1:p.Ser655Tyr
XM_011537069.2:c.2012C>A	XP_011535371.2:p.Ser671Tyr
XM_011537070.2:c.1868C>A	XP_011535372.1:p.Ser623Tyr
XM_011537071.2:c.1922C>A	XP_011535373.2:p.Ser641Tyr
XM_011537072.2:c.1814C>A	XP_011535374.1:p.Ser605Tyr
XM_017021582.1:c.2072C>A	XP_016877071.1:p.Ser691Tyr
XM_017021583.1:c.2063C>A	XP_016877072.1:p.Ser688Tyr
XM_017021584.1:c.1982C>A	XP_016877073.1:p.Ser661Tyr
XM_017021585.1:c.1931C>A	XP_016877074.1:p.Ser644Tyr
XM_017021586.1:c.1607C>A	XP_016877075.1:p.Ser536Tyr
XM_017021587.1:c.1607C>A	XP_016877076.1:p.Ser536Tyr
XM_017021588.1:c.1607C>A	XP_016877077.1:p.Ser536Tyr
NM_001164749.2:c.1913C>A MANE Select	NP_001158221.1:p.Ser638Tyr
NM_001165893.2:c.1823C>A	NP_001159365.1:p.Ser608Tyr
NM_022123.3:c.1817C>A	NP_071406.1:p.Ser606Tyr
NM_173159.3:c.1874C>A	NP_775182.1:p.Ser625Tyr
NM_001394988.1:c.1868C>A	NP_001381917.1:p.Ser623Tyr
NM_001394989.1:c.1814C>A	NP_001381918.1:p.Ser605Tyr