Canonical Allele Identifier: CA389412204

Gene: NPAS3

Linked Data

• gnomAD v4: 14-33800061-G-T
• MyVariant Identifiers: chr14:g.34269267G>T (hg19) ; chr14:g.33800061G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800061G>T , CM000676.2:g.33800061G>T	GRCh38
NC_000014.8:g.34269267G>T , CM000676.1:g.34269267G>T	GRCh37
NC_000014.7:g.33339018G>T	NCBI36
NG_013036.1:g.865809G>T
NG_013036.2:g.865809G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1754G>T MANE Select	ENSP00000348460.4:p.Ser585Ile
ENST00000551634.6:c.1763G>T	ENSP00000448373.2:p.Ser588Ile
ENST00000680362.1:c.1654G>T
ENST00000681323.1:c.793+2480G>T
ENST00000346562.6:c.1658G>T	ENSP00000319610.5:p.Ser553Ile
ENST00000356141.8:c.1754G>T	ENSP00000348460.4:p.Ser585Ile
ENST00000357798.9:c.1715G>T	ENSP00000350446.5:p.Ser572Ile
ENST00000548645.5:c.1664G>T	ENSP00000448916.1:p.Ser555Ile
ENST00000551492.5:c.1769G>T	ENSP00000450392.1:p.Ser590Ile
ENST00000551634.5:c.1676G>T	ENSP00000448373.1:p.Ser559Ile
NM_001164749.1:c.1754G>T	NP_001158221.1:p.Ser585Ile
NM_001165893.1:c.1664G>T	NP_001159365.1:p.Ser555Ile
NM_022123.2:c.1658G>T	NP_071406.1:p.Ser553Ile
NM_173159.2:c.1715G>T	NP_775182.1:p.Ser572Ile
XM_005267991.2:c.1775G>T	XP_005268048.1:p.Ser592Ile
XM_005267992.2:c.1769G>T	XP_005268049.1:p.Ser590Ile
XM_005267993.2:c.1715G>T	XP_005268050.1:p.Ser572Ile
XM_011537067.1:c.1805G>T	XP_011535369.1:p.Ser602Ile
XM_011537068.1:c.1796G>T	XP_011535370.1:p.Ser599Ile
XM_011537069.1:c.1766G>T	XP_011535371.1:p.Ser589Ile
XM_011537070.1:c.1709G>T	XP_011535372.1:p.Ser570Ile
XM_011537071.1:c.1676G>T	XP_011535373.1:p.Ser559Ile
XM_011537072.1:c.1655G>T	XP_011535374.1:p.Ser552Ile
XM_011537073.1:c.1448G>T	XP_011535375.1:p.Ser483Ile
XM_011537074.1:c.1448G>T	XP_011535376.1:p.Ser483Ile
XM_005267991.3:c.1862G>T	XP_005268048.2:p.Ser621Ile
XM_005267992.3:c.1856G>T	XP_005268049.2:p.Ser619Ile
XM_011537067.2:c.1805G>T	XP_011535369.1:p.Ser602Ile
XM_011537069.2:c.1853G>T	XP_011535371.2:p.Ser618Ile
XM_011537070.2:c.1709G>T	XP_011535372.1:p.Ser570Ile
XM_011537071.2:c.1763G>T	XP_011535373.2:p.Ser588Ile
XM_011537072.2:c.1655G>T	XP_011535374.1:p.Ser552Ile
XM_017021582.1:c.1913G>T	XP_016877071.1:p.Ser638Ile
XM_017021583.1:c.1904G>T	XP_016877072.1:p.Ser635Ile
XM_017021584.1:c.1823G>T	XP_016877073.1:p.Ser608Ile
XM_017021585.1:c.1772G>T	XP_016877074.1:p.Ser591Ile
XM_017021586.1:c.1448G>T	XP_016877075.1:p.Ser483Ile
XM_017021587.1:c.1448G>T	XP_016877076.1:p.Ser483Ile
XM_017021588.1:c.1448G>T	XP_016877077.1:p.Ser483Ile
NM_001164749.2:c.1754G>T MANE Select	NP_001158221.1:p.Ser585Ile
NM_001165893.2:c.1664G>T	NP_001159365.1:p.Ser555Ile
NM_022123.3:c.1658G>T	NP_071406.1:p.Ser553Ile
NM_173159.3:c.1715G>T	NP_775182.1:p.Ser572Ile
NM_001394988.1:c.1709G>T	NP_001381917.1:p.Ser570Ile
NM_001394989.1:c.1655G>T	NP_001381918.1:p.Ser552Ile