Canonical Allele Identifier: CA486093304
Gene: NPAS3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.34269727C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.33800521C>G , CM000676.2:g.33800521C>G GRCh38
NC_000014.8:g.34269727C>G , CM000676.1:g.34269727C>G GRCh37
NC_000014.7:g.33339478C>G NCBI36
NG_013036.1:g.866269C>G
NG_013036.2:g.866269C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000356141.9:c.2214C>G MANE Select ENSP00000348460.4:p.Ala738=
ENST00000551634.6:c.2223C>G ENSP00000448373.2:p.Ala741=
ENST00000680362.1:c.2114C>G
ENST00000681323.1:c.793+2940C>G
ENST00000346562.6:c.2118C>G ENSP00000319610.5:p.Ala706=
ENST00000356141.8:c.2214C>G ENSP00000348460.4:p.Ala738=
ENST00000357798.9:c.2175C>G ENSP00000350446.5:p.Ala725=
ENST00000548645.5:c.2124C>G ENSP00000448916.1:p.Ala708=
ENST00000551492.5:c.2229C>G ENSP00000450392.1:p.Ala743=
ENST00000551634.5:c.2136C>G ENSP00000448373.1:p.Ala712=
NM_001164749.1:c.2214C>G NP_001158221.1:p.Ala738=
NM_001165893.1:c.2124C>G NP_001159365.1:p.Ala708=
NM_022123.2:c.2118C>G NP_071406.1:p.Ala706=
NM_173159.2:c.2175C>G NP_775182.1:p.Ala725=
XM_005267991.2:c.2235C>G XP_005268048.1:p.Ala745=
XM_005267992.2:c.2229C>G XP_005268049.1:p.Ala743=
XM_005267993.2:c.2175C>G XP_005268050.1:p.Ala725=
XM_011537067.1:c.2265C>G XP_011535369.1:p.Ala755=
XM_011537068.1:c.2256C>G XP_011535370.1:p.Ala752=
XM_011537069.1:c.2226C>G XP_011535371.1:p.Ala742=
XM_011537070.1:c.2169C>G XP_011535372.1:p.Ala723=
XM_011537071.1:c.2136C>G XP_011535373.1:p.Ala712=
XM_011537072.1:c.2115C>G XP_011535374.1:p.Ala705=
XM_011537073.1:c.1908C>G XP_011535375.1:p.Ala636=
XM_011537074.1:c.1908C>G XP_011535376.1:p.Ala636=
XM_005267991.3:c.2322C>G XP_005268048.2:p.Ala774=
XM_005267992.3:c.2316C>G XP_005268049.2:p.Ala772=
XM_011537067.2:c.2265C>G XP_011535369.1:p.Ala755=
XM_011537069.2:c.2313C>G XP_011535371.2:p.Ala771=
XM_011537070.2:c.2169C>G XP_011535372.1:p.Ala723=
XM_011537071.2:c.2223C>G XP_011535373.2:p.Ala741=
XM_011537072.2:c.2115C>G XP_011535374.1:p.Ala705=
XM_017021582.1:c.2373C>G XP_016877071.1:p.Ala791=
XM_017021583.1:c.2364C>G XP_016877072.1:p.Ala788=
XM_017021584.1:c.2283C>G XP_016877073.1:p.Ala761=
XM_017021585.1:c.2232C>G XP_016877074.1:p.Ala744=
XM_017021586.1:c.1908C>G XP_016877075.1:p.Ala636=
XM_017021587.1:c.1908C>G XP_016877076.1:p.Ala636=
XM_017021588.1:c.1908C>G XP_016877077.1:p.Ala636=
NM_001164749.2:c.2214C>G MANE Select NP_001158221.1:p.Ala738=
NM_001165893.2:c.2124C>G NP_001159365.1:p.Ala708=
NM_022123.3:c.2118C>G NP_071406.1:p.Ala706=
NM_173159.3:c.2175C>G NP_775182.1:p.Ala725=
NM_001394988.1:c.2169C>G NP_001381917.1:p.Ala723=
NM_001394989.1:c.2115C>G NP_001381918.1:p.Ala705=