Canonical Allele Identifier: CA486092922
Gene: NPAS3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.34269421G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.33800215G>T , CM000676.2:g.33800215G>T GRCh38
NC_000014.8:g.34269421G>T , CM000676.1:g.34269421G>T GRCh37
NC_000014.7:g.33339172G>T NCBI36
NG_013036.1:g.865963G>T
NG_013036.2:g.865963G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356141.9:c.1908G>T MANE Select ENSP00000348460.4:p.Leu636=
ENST00000551634.6:c.1917G>T ENSP00000448373.2:p.Leu639=
ENST00000680362.1:c.1808G>T
ENST00000681323.1:c.793+2634G>T
ENST00000346562.6:c.1812G>T ENSP00000319610.5:p.Leu604=
ENST00000356141.8:c.1908G>T ENSP00000348460.4:p.Leu636=
ENST00000357798.9:c.1869G>T ENSP00000350446.5:p.Leu623=
ENST00000548645.5:c.1818G>T ENSP00000448916.1:p.Leu606=
ENST00000551492.5:c.1923G>T ENSP00000450392.1:p.Leu641=
ENST00000551634.5:c.1830G>T ENSP00000448373.1:p.Leu610=
NM_001164749.1:c.1908G>T NP_001158221.1:p.Leu636=
NM_001165893.1:c.1818G>T NP_001159365.1:p.Leu606=
NM_022123.2:c.1812G>T NP_071406.1:p.Leu604=
NM_173159.2:c.1869G>T NP_775182.1:p.Leu623=
XM_005267991.2:c.1929G>T XP_005268048.1:p.Leu643=
XM_005267992.2:c.1923G>T XP_005268049.1:p.Leu641=
XM_005267993.2:c.1869G>T XP_005268050.1:p.Leu623=
XM_011537067.1:c.1959G>T XP_011535369.1:p.Leu653=
XM_011537068.1:c.1950G>T XP_011535370.1:p.Leu650=
XM_011537069.1:c.1920G>T XP_011535371.1:p.Leu640=
XM_011537070.1:c.1863G>T XP_011535372.1:p.Leu621=
XM_011537071.1:c.1830G>T XP_011535373.1:p.Leu610=
XM_011537072.1:c.1809G>T XP_011535374.1:p.Leu603=
XM_011537073.1:c.1602G>T XP_011535375.1:p.Leu534=
XM_011537074.1:c.1602G>T XP_011535376.1:p.Leu534=
XM_005267991.3:c.2016G>T XP_005268048.2:p.Leu672=
XM_005267992.3:c.2010G>T XP_005268049.2:p.Leu670=
XM_011537067.2:c.1959G>T XP_011535369.1:p.Leu653=
XM_011537069.2:c.2007G>T XP_011535371.2:p.Leu669=
XM_011537070.2:c.1863G>T XP_011535372.1:p.Leu621=
XM_011537071.2:c.1917G>T XP_011535373.2:p.Leu639=
XM_011537072.2:c.1809G>T XP_011535374.1:p.Leu603=
XM_017021582.1:c.2067G>T XP_016877071.1:p.Leu689=
XM_017021583.1:c.2058G>T XP_016877072.1:p.Leu686=
XM_017021584.1:c.1977G>T XP_016877073.1:p.Leu659=
XM_017021585.1:c.1926G>T XP_016877074.1:p.Leu642=
XM_017021586.1:c.1602G>T XP_016877075.1:p.Leu534=
XM_017021587.1:c.1602G>T XP_016877076.1:p.Leu534=
XM_017021588.1:c.1602G>T XP_016877077.1:p.Leu534=
NM_001164749.2:c.1908G>T MANE Select NP_001158221.1:p.Leu636=
NM_001165893.2:c.1818G>T NP_001159365.1:p.Leu606=
NM_022123.3:c.1812G>T NP_071406.1:p.Leu604=
NM_173159.3:c.1869G>T NP_775182.1:p.Leu623=
NM_001394988.1:c.1863G>T NP_001381917.1:p.Leu621=
NM_001394989.1:c.1809G>T NP_001381918.1:p.Leu603=