Canonical Allele Identifier: CA389412417
Gene: NPAS3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2548793
ClinVar RCV Id: RCV004315571
dbSNP Id: rs760726484

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.33800098C>A , CM000676.2:g.33800098C>A GRCh38
NC_000014.8:g.34269304C>A , CM000676.1:g.34269304C>A GRCh37
NC_000014.7:g.33339055C>A NCBI36
NG_013036.1:g.865846C>A
NG_013036.2:g.865846C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356141.9:c.1791C>A MANE Select ENSP00000348460.4:p.His597Gln
ENST00000551634.6:c.1800C>A ENSP00000448373.2:p.His600Gln
ENST00000680362.1:c.1691C>A
ENST00000681323.1:c.793+2517C>A
ENST00000346562.6:c.1695C>A ENSP00000319610.5:p.His565Gln
ENST00000356141.8:c.1791C>A ENSP00000348460.4:p.His597Gln
ENST00000357798.9:c.1752C>A ENSP00000350446.5:p.His584Gln
ENST00000548645.5:c.1701C>A ENSP00000448916.1:p.His567Gln
ENST00000551492.5:c.1806C>A ENSP00000450392.1:p.His602Gln
ENST00000551634.5:c.1713C>A ENSP00000448373.1:p.His571Gln
NM_001164749.1:c.1791C>A NP_001158221.1:p.His597Gln
NM_001165893.1:c.1701C>A NP_001159365.1:p.His567Gln
NM_022123.2:c.1695C>A NP_071406.1:p.His565Gln
NM_173159.2:c.1752C>A NP_775182.1:p.His584Gln
XM_005267991.2:c.1812C>A XP_005268048.1:p.His604Gln
XM_005267992.2:c.1806C>A XP_005268049.1:p.His602Gln
XM_005267993.2:c.1752C>A XP_005268050.1:p.His584Gln
XM_011537067.1:c.1842C>A XP_011535369.1:p.His614Gln
XM_011537068.1:c.1833C>A XP_011535370.1:p.His611Gln
XM_011537069.1:c.1803C>A XP_011535371.1:p.His601Gln
XM_011537070.1:c.1746C>A XP_011535372.1:p.His582Gln
XM_011537071.1:c.1713C>A XP_011535373.1:p.His571Gln
XM_011537072.1:c.1692C>A XP_011535374.1:p.His564Gln
XM_011537073.1:c.1485C>A XP_011535375.1:p.His495Gln
XM_011537074.1:c.1485C>A XP_011535376.1:p.His495Gln
XM_005267991.3:c.1899C>A XP_005268048.2:p.His633Gln
XM_005267992.3:c.1893C>A XP_005268049.2:p.His631Gln
XM_011537067.2:c.1842C>A XP_011535369.1:p.His614Gln
XM_011537069.2:c.1890C>A XP_011535371.2:p.His630Gln
XM_011537070.2:c.1746C>A XP_011535372.1:p.His582Gln
XM_011537071.2:c.1800C>A XP_011535373.2:p.His600Gln
XM_011537072.2:c.1692C>A XP_011535374.1:p.His564Gln
XM_017021582.1:c.1950C>A XP_016877071.1:p.His650Gln
XM_017021583.1:c.1941C>A XP_016877072.1:p.His647Gln
XM_017021584.1:c.1860C>A XP_016877073.1:p.His620Gln
XM_017021585.1:c.1809C>A XP_016877074.1:p.His603Gln
XM_017021586.1:c.1485C>A XP_016877075.1:p.His495Gln
XM_017021587.1:c.1485C>A XP_016877076.1:p.His495Gln
XM_017021588.1:c.1485C>A XP_016877077.1:p.His495Gln
NM_001164749.2:c.1791C>A MANE Select NP_001158221.1:p.His597Gln
NM_001165893.2:c.1701C>A NP_001159365.1:p.His567Gln
NM_022123.3:c.1695C>A NP_071406.1:p.His565Gln
NM_173159.3:c.1752C>A NP_775182.1:p.His584Gln
NM_001394988.1:c.1746C>A NP_001381917.1:p.His582Gln
NM_001394989.1:c.1692C>A NP_001381918.1:p.His564Gln