Canonical Allele Identifier: CA486093288
Gene: NPAS3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.34269718C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.33800512C>G , CM000676.2:g.33800512C>G GRCh38
NC_000014.8:g.34269718C>G , CM000676.1:g.34269718C>G GRCh37
NC_000014.7:g.33339469C>G NCBI36
NG_013036.1:g.866260C>G
NG_013036.2:g.866260C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356141.9:c.2205C>G MANE Select ENSP00000348460.4:p.Ala735=
ENST00000551634.6:c.2214C>G ENSP00000448373.2:p.Ala738=
ENST00000680362.1:c.2105C>G
ENST00000681323.1:c.793+2931C>G
ENST00000346562.6:c.2109C>G ENSP00000319610.5:p.Ala703=
ENST00000356141.8:c.2205C>G ENSP00000348460.4:p.Ala735=
ENST00000357798.9:c.2166C>G ENSP00000350446.5:p.Ala722=
ENST00000548645.5:c.2115C>G ENSP00000448916.1:p.Ala705=
ENST00000551492.5:c.2220C>G ENSP00000450392.1:p.Ala740=
ENST00000551634.5:c.2127C>G ENSP00000448373.1:p.Ala709=
NM_001164749.1:c.2205C>G NP_001158221.1:p.Ala735=
NM_001165893.1:c.2115C>G NP_001159365.1:p.Ala705=
NM_022123.2:c.2109C>G NP_071406.1:p.Ala703=
NM_173159.2:c.2166C>G NP_775182.1:p.Ala722=
XM_005267991.2:c.2226C>G XP_005268048.1:p.Ala742=
XM_005267992.2:c.2220C>G XP_005268049.1:p.Ala740=
XM_005267993.2:c.2166C>G XP_005268050.1:p.Ala722=
XM_011537067.1:c.2256C>G XP_011535369.1:p.Ala752=
XM_011537068.1:c.2247C>G XP_011535370.1:p.Ala749=
XM_011537069.1:c.2217C>G XP_011535371.1:p.Ala739=
XM_011537070.1:c.2160C>G XP_011535372.1:p.Ala720=
XM_011537071.1:c.2127C>G XP_011535373.1:p.Ala709=
XM_011537072.1:c.2106C>G XP_011535374.1:p.Ala702=
XM_011537073.1:c.1899C>G XP_011535375.1:p.Ala633=
XM_011537074.1:c.1899C>G XP_011535376.1:p.Ala633=
XM_005267991.3:c.2313C>G XP_005268048.2:p.Ala771=
XM_005267992.3:c.2307C>G XP_005268049.2:p.Ala769=
XM_011537067.2:c.2256C>G XP_011535369.1:p.Ala752=
XM_011537069.2:c.2304C>G XP_011535371.2:p.Ala768=
XM_011537070.2:c.2160C>G XP_011535372.1:p.Ala720=
XM_011537071.2:c.2214C>G XP_011535373.2:p.Ala738=
XM_011537072.2:c.2106C>G XP_011535374.1:p.Ala702=
XM_017021582.1:c.2364C>G XP_016877071.1:p.Ala788=
XM_017021583.1:c.2355C>G XP_016877072.1:p.Ala785=
XM_017021584.1:c.2274C>G XP_016877073.1:p.Ala758=
XM_017021585.1:c.2223C>G XP_016877074.1:p.Ala741=
XM_017021586.1:c.1899C>G XP_016877075.1:p.Ala633=
XM_017021587.1:c.1899C>G XP_016877076.1:p.Ala633=
XM_017021588.1:c.1899C>G XP_016877077.1:p.Ala633=
NM_001164749.2:c.2205C>G MANE Select NP_001158221.1:p.Ala735=
NM_001165893.2:c.2115C>G NP_001159365.1:p.Ala705=
NM_022123.3:c.2109C>G NP_071406.1:p.Ala703=
NM_173159.3:c.2166C>G NP_775182.1:p.Ala722=
NM_001394988.1:c.2160C>G NP_001381917.1:p.Ala720=
NM_001394989.1:c.2106C>G NP_001381918.1:p.Ala702=