Canonical Allele Identifier: CA486092963
Gene: NPAS3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.34269271A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.33800065A>C , CM000676.2:g.33800065A>C GRCh38
NC_000014.8:g.34269271A>C , CM000676.1:g.34269271A>C GRCh37
NC_000014.7:g.33339022A>C NCBI36
NG_013036.1:g.865813A>C
NG_013036.2:g.865813A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356141.9:c.1758A>C MANE Select ENSP00000348460.4:p.Ala586=
ENST00000551634.6:c.1767A>C ENSP00000448373.2:p.Ala589=
ENST00000680362.1:c.1658A>C
ENST00000681323.1:c.793+2484A>C
ENST00000346562.6:c.1662A>C ENSP00000319610.5:p.Ala554=
ENST00000356141.8:c.1758A>C ENSP00000348460.4:p.Ala586=
ENST00000357798.9:c.1719A>C ENSP00000350446.5:p.Ala573=
ENST00000548645.5:c.1668A>C ENSP00000448916.1:p.Ala556=
ENST00000551492.5:c.1773A>C ENSP00000450392.1:p.Ala591=
ENST00000551634.5:c.1680A>C ENSP00000448373.1:p.Ala560=
NM_001164749.1:c.1758A>C NP_001158221.1:p.Ala586=
NM_001165893.1:c.1668A>C NP_001159365.1:p.Ala556=
NM_022123.2:c.1662A>C NP_071406.1:p.Ala554=
NM_173159.2:c.1719A>C NP_775182.1:p.Ala573=
XM_005267991.2:c.1779A>C XP_005268048.1:p.Ala593=
XM_005267992.2:c.1773A>C XP_005268049.1:p.Ala591=
XM_005267993.2:c.1719A>C XP_005268050.1:p.Ala573=
XM_011537067.1:c.1809A>C XP_011535369.1:p.Ala603=
XM_011537068.1:c.1800A>C XP_011535370.1:p.Ala600=
XM_011537069.1:c.1770A>C XP_011535371.1:p.Ala590=
XM_011537070.1:c.1713A>C XP_011535372.1:p.Ala571=
XM_011537071.1:c.1680A>C XP_011535373.1:p.Ala560=
XM_011537072.1:c.1659A>C XP_011535374.1:p.Ala553=
XM_011537073.1:c.1452A>C XP_011535375.1:p.Ala484=
XM_011537074.1:c.1452A>C XP_011535376.1:p.Ala484=
XM_005267991.3:c.1866A>C XP_005268048.2:p.Ala622=
XM_005267992.3:c.1860A>C XP_005268049.2:p.Ala620=
XM_011537067.2:c.1809A>C XP_011535369.1:p.Ala603=
XM_011537069.2:c.1857A>C XP_011535371.2:p.Ala619=
XM_011537070.2:c.1713A>C XP_011535372.1:p.Ala571=
XM_011537071.2:c.1767A>C XP_011535373.2:p.Ala589=
XM_011537072.2:c.1659A>C XP_011535374.1:p.Ala553=
XM_017021582.1:c.1917A>C XP_016877071.1:p.Ala639=
XM_017021583.1:c.1908A>C XP_016877072.1:p.Ala636=
XM_017021584.1:c.1827A>C XP_016877073.1:p.Ala609=
XM_017021585.1:c.1776A>C XP_016877074.1:p.Ala592=
XM_017021586.1:c.1452A>C XP_016877075.1:p.Ala484=
XM_017021587.1:c.1452A>C XP_016877076.1:p.Ala484=
XM_017021588.1:c.1452A>C XP_016877077.1:p.Ala484=
NM_001164749.2:c.1758A>C MANE Select NP_001158221.1:p.Ala586=
NM_001165893.2:c.1668A>C NP_001159365.1:p.Ala556=
NM_022123.3:c.1662A>C NP_071406.1:p.Ala554=
NM_173159.3:c.1719A>C NP_775182.1:p.Ala573=
NM_001394988.1:c.1713A>C NP_001381917.1:p.Ala571=
NM_001394989.1:c.1659A>C NP_001381918.1:p.Ala553=