Canonical Allele Identifier: CA486092953

Gene: NPAS3

Linked Data

• dbSNP Id: rs1269347334
• gnomAD v2: 14-34269262-G-A
• gnomAD v4: 14-33800056-G-A
• COSMIC: COSM1477536 ; COSM1477537 ; COSM1477538
• MyVariant Identifiers: chr14:g.34269262G>A (hg19) ; chr14:g.33800056G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800056G>A , CM000676.2:g.33800056G>A	GRCh38
NC_000014.8:g.34269262G>A , CM000676.1:g.34269262G>A	GRCh37
NC_000014.7:g.33339013G>A	NCBI36
NG_013036.1:g.865804G>A
NG_013036.2:g.865804G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1749G>A MANE Select	ENSP00000348460.4:p.Ser583=
ENST00000551634.6:c.1758G>A	ENSP00000448373.2:p.Ser586=
ENST00000680362.1:c.1649G>A
ENST00000681323.1:c.793+2475G>A
ENST00000346562.6:c.1653G>A	ENSP00000319610.5:p.Ser551=
ENST00000356141.8:c.1749G>A	ENSP00000348460.4:p.Ser583=
ENST00000357798.9:c.1710G>A	ENSP00000350446.5:p.Ser570=
ENST00000548645.5:c.1659G>A	ENSP00000448916.1:p.Ser553=
ENST00000551492.5:c.1764G>A	ENSP00000450392.1:p.Ser588=
ENST00000551634.5:c.1671G>A	ENSP00000448373.1:p.Ser557=
NM_001164749.1:c.1749G>A	NP_001158221.1:p.Ser583=
NM_001165893.1:c.1659G>A	NP_001159365.1:p.Ser553=
NM_022123.2:c.1653G>A	NP_071406.1:p.Ser551=
NM_173159.2:c.1710G>A	NP_775182.1:p.Ser570=
XM_005267991.2:c.1770G>A	XP_005268048.1:p.Ser590=
XM_005267992.2:c.1764G>A	XP_005268049.1:p.Ser588=
XM_005267993.2:c.1710G>A	XP_005268050.1:p.Ser570=
XM_011537067.1:c.1800G>A	XP_011535369.1:p.Ser600=
XM_011537068.1:c.1791G>A	XP_011535370.1:p.Ser597=
XM_011537069.1:c.1761G>A	XP_011535371.1:p.Ser587=
XM_011537070.1:c.1704G>A	XP_011535372.1:p.Ser568=
XM_011537071.1:c.1671G>A	XP_011535373.1:p.Ser557=
XM_011537072.1:c.1650G>A	XP_011535374.1:p.Ser550=
XM_011537073.1:c.1443G>A	XP_011535375.1:p.Ser481=
XM_011537074.1:c.1443G>A	XP_011535376.1:p.Ser481=
XM_005267991.3:c.1857G>A	XP_005268048.2:p.Ser619=
XM_005267992.3:c.1851G>A	XP_005268049.2:p.Ser617=
XM_011537067.2:c.1800G>A	XP_011535369.1:p.Ser600=
XM_011537069.2:c.1848G>A	XP_011535371.2:p.Ser616=
XM_011537070.2:c.1704G>A	XP_011535372.1:p.Ser568=
XM_011537071.2:c.1758G>A	XP_011535373.2:p.Ser586=
XM_011537072.2:c.1650G>A	XP_011535374.1:p.Ser550=
XM_017021582.1:c.1908G>A	XP_016877071.1:p.Ser636=
XM_017021583.1:c.1899G>A	XP_016877072.1:p.Ser633=
XM_017021584.1:c.1818G>A	XP_016877073.1:p.Ser606=
XM_017021585.1:c.1767G>A	XP_016877074.1:p.Ser589=
XM_017021586.1:c.1443G>A	XP_016877075.1:p.Ser481=
XM_017021587.1:c.1443G>A	XP_016877076.1:p.Ser481=
XM_017021588.1:c.1443G>A	XP_016877077.1:p.Ser481=
NM_001164749.2:c.1749G>A MANE Select	NP_001158221.1:p.Ser583=
NM_001165893.2:c.1659G>A	NP_001159365.1:p.Ser553=
NM_022123.3:c.1653G>A	NP_071406.1:p.Ser551=
NM_173159.3:c.1710G>A	NP_775182.1:p.Ser570=
NM_001394988.1:c.1704G>A	NP_001381917.1:p.Ser568=
NM_001394989.1:c.1650G>A	NP_001381918.1:p.Ser550=