Canonical Allele Identifier: CA486092906
Gene: NPAS3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.34269412C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.33800206C>A , CM000676.2:g.33800206C>A GRCh38
NC_000014.8:g.34269412C>A , CM000676.1:g.34269412C>A GRCh37
NC_000014.7:g.33339163C>A NCBI36
NG_013036.1:g.865954C>A
NG_013036.2:g.865954C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356141.9:c.1899C>A MANE Select ENSP00000348460.4:p.Pro633=
ENST00000551634.6:c.1908C>A ENSP00000448373.2:p.Pro636=
ENST00000680362.1:c.1799C>A
ENST00000681323.1:c.793+2625C>A
ENST00000346562.6:c.1803C>A ENSP00000319610.5:p.Pro601=
ENST00000356141.8:c.1899C>A ENSP00000348460.4:p.Pro633=
ENST00000357798.9:c.1860C>A ENSP00000350446.5:p.Pro620=
ENST00000548645.5:c.1809C>A ENSP00000448916.1:p.Pro603=
ENST00000551492.5:c.1914C>A ENSP00000450392.1:p.Pro638=
ENST00000551634.5:c.1821C>A ENSP00000448373.1:p.Pro607=
NM_001164749.1:c.1899C>A NP_001158221.1:p.Pro633=
NM_001165893.1:c.1809C>A NP_001159365.1:p.Pro603=
NM_022123.2:c.1803C>A NP_071406.1:p.Pro601=
NM_173159.2:c.1860C>A NP_775182.1:p.Pro620=
XM_005267991.2:c.1920C>A XP_005268048.1:p.Pro640=
XM_005267992.2:c.1914C>A XP_005268049.1:p.Pro638=
XM_005267993.2:c.1860C>A XP_005268050.1:p.Pro620=
XM_011537067.1:c.1950C>A XP_011535369.1:p.Pro650=
XM_011537068.1:c.1941C>A XP_011535370.1:p.Pro647=
XM_011537069.1:c.1911C>A XP_011535371.1:p.Pro637=
XM_011537070.1:c.1854C>A XP_011535372.1:p.Pro618=
XM_011537071.1:c.1821C>A XP_011535373.1:p.Pro607=
XM_011537072.1:c.1800C>A XP_011535374.1:p.Pro600=
XM_011537073.1:c.1593C>A XP_011535375.1:p.Pro531=
XM_011537074.1:c.1593C>A XP_011535376.1:p.Pro531=
XM_005267991.3:c.2007C>A XP_005268048.2:p.Pro669=
XM_005267992.3:c.2001C>A XP_005268049.2:p.Pro667=
XM_011537067.2:c.1950C>A XP_011535369.1:p.Pro650=
XM_011537069.2:c.1998C>A XP_011535371.2:p.Pro666=
XM_011537070.2:c.1854C>A XP_011535372.1:p.Pro618=
XM_011537071.2:c.1908C>A XP_011535373.2:p.Pro636=
XM_011537072.2:c.1800C>A XP_011535374.1:p.Pro600=
XM_017021582.1:c.2058C>A XP_016877071.1:p.Pro686=
XM_017021583.1:c.2049C>A XP_016877072.1:p.Pro683=
XM_017021584.1:c.1968C>A XP_016877073.1:p.Pro656=
XM_017021585.1:c.1917C>A XP_016877074.1:p.Pro639=
XM_017021586.1:c.1593C>A XP_016877075.1:p.Pro531=
XM_017021587.1:c.1593C>A XP_016877076.1:p.Pro531=
XM_017021588.1:c.1593C>A XP_016877077.1:p.Pro531=
NM_001164749.2:c.1899C>A MANE Select NP_001158221.1:p.Pro633=
NM_001165893.2:c.1809C>A NP_001159365.1:p.Pro603=
NM_022123.3:c.1803C>A NP_071406.1:p.Pro601=
NM_173159.3:c.1860C>A NP_775182.1:p.Pro620=
NM_001394988.1:c.1854C>A NP_001381917.1:p.Pro618=
NM_001394989.1:c.1800C>A NP_001381918.1:p.Pro600=