Canonical Allele Identifier: CA389412407

Gene: NPAS3

Linked Data

• dbSNP Id: rs1219157843
• gnomAD v2: 14-34269302-C-T
• gnomAD v4: 14-33800096-C-T
• MyVariant Identifiers: chr14:g.34269302C>T (hg19) ; chr14:g.33800096C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800096C>T , CM000676.2:g.33800096C>T	GRCh38
NC_000014.8:g.34269302C>T , CM000676.1:g.34269302C>T	GRCh37
NC_000014.7:g.33339053C>T	NCBI36
NG_013036.1:g.865844C>T
NG_013036.2:g.865844C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1789C>T MANE Select	ENSP00000348460.4:p.His597Tyr
ENST00000551634.6:c.1798C>T	ENSP00000448373.2:p.His600Tyr
ENST00000680362.1:c.1689C>T
ENST00000681323.1:c.793+2515C>T
ENST00000346562.6:c.1693C>T	ENSP00000319610.5:p.His565Tyr
ENST00000356141.8:c.1789C>T	ENSP00000348460.4:p.His597Tyr
ENST00000357798.9:c.1750C>T	ENSP00000350446.5:p.His584Tyr
ENST00000548645.5:c.1699C>T	ENSP00000448916.1:p.His567Tyr
ENST00000551492.5:c.1804C>T	ENSP00000450392.1:p.His602Tyr
ENST00000551634.5:c.1711C>T	ENSP00000448373.1:p.His571Tyr
NM_001164749.1:c.1789C>T	NP_001158221.1:p.His597Tyr
NM_001165893.1:c.1699C>T	NP_001159365.1:p.His567Tyr
NM_022123.2:c.1693C>T	NP_071406.1:p.His565Tyr
NM_173159.2:c.1750C>T	NP_775182.1:p.His584Tyr
XM_005267991.2:c.1810C>T	XP_005268048.1:p.His604Tyr
XM_005267992.2:c.1804C>T	XP_005268049.1:p.His602Tyr
XM_005267993.2:c.1750C>T	XP_005268050.1:p.His584Tyr
XM_011537067.1:c.1840C>T	XP_011535369.1:p.His614Tyr
XM_011537068.1:c.1831C>T	XP_011535370.1:p.His611Tyr
XM_011537069.1:c.1801C>T	XP_011535371.1:p.His601Tyr
XM_011537070.1:c.1744C>T	XP_011535372.1:p.His582Tyr
XM_011537071.1:c.1711C>T	XP_011535373.1:p.His571Tyr
XM_011537072.1:c.1690C>T	XP_011535374.1:p.His564Tyr
XM_011537073.1:c.1483C>T	XP_011535375.1:p.His495Tyr
XM_011537074.1:c.1483C>T	XP_011535376.1:p.His495Tyr
XM_005267991.3:c.1897C>T	XP_005268048.2:p.His633Tyr
XM_005267992.3:c.1891C>T	XP_005268049.2:p.His631Tyr
XM_011537067.2:c.1840C>T	XP_011535369.1:p.His614Tyr
XM_011537069.2:c.1888C>T	XP_011535371.2:p.His630Tyr
XM_011537070.2:c.1744C>T	XP_011535372.1:p.His582Tyr
XM_011537071.2:c.1798C>T	XP_011535373.2:p.His600Tyr
XM_011537072.2:c.1690C>T	XP_011535374.1:p.His564Tyr
XM_017021582.1:c.1948C>T	XP_016877071.1:p.His650Tyr
XM_017021583.1:c.1939C>T	XP_016877072.1:p.His647Tyr
XM_017021584.1:c.1858C>T	XP_016877073.1:p.His620Tyr
XM_017021585.1:c.1807C>T	XP_016877074.1:p.His603Tyr
XM_017021586.1:c.1483C>T	XP_016877075.1:p.His495Tyr
XM_017021587.1:c.1483C>T	XP_016877076.1:p.His495Tyr
XM_017021588.1:c.1483C>T	XP_016877077.1:p.His495Tyr
NM_001164749.2:c.1789C>T MANE Select	NP_001158221.1:p.His597Tyr
NM_001165893.2:c.1699C>T	NP_001159365.1:p.His567Tyr
NM_022123.3:c.1693C>T	NP_071406.1:p.His565Tyr
NM_173159.3:c.1750C>T	NP_775182.1:p.His584Tyr
NM_001394988.1:c.1744C>T	NP_001381917.1:p.His582Tyr
NM_001394989.1:c.1690C>T	NP_001381918.1:p.His564Tyr