Canonical Allele Identifier: CA486092954
Gene: NPAS3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.34269262G>C (hg19)

Genomic Alleles

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

Transcript Alleles

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