Canonical Allele Identifier: CA486092995
Gene: NPAS3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.34269478C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.33800272C>G , CM000676.2:g.33800272C>G GRCh38
NC_000014.8:g.34269478C>G , CM000676.1:g.34269478C>G GRCh37
NC_000014.7:g.33339229C>G NCBI36
NG_013036.1:g.866020C>G
NG_013036.2:g.866020C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356141.9:c.1965C>G MANE Select ENSP00000348460.4:p.Pro655=
ENST00000551634.6:c.1974C>G ENSP00000448373.2:p.Pro658=
ENST00000680362.1:c.1865C>G
ENST00000681323.1:c.793+2691C>G
ENST00000346562.6:c.1869C>G ENSP00000319610.5:p.Pro623=
ENST00000356141.8:c.1965C>G ENSP00000348460.4:p.Pro655=
ENST00000357798.9:c.1926C>G ENSP00000350446.5:p.Pro642=
ENST00000548645.5:c.1875C>G ENSP00000448916.1:p.Pro625=
ENST00000551492.5:c.1980C>G ENSP00000450392.1:p.Pro660=
ENST00000551634.5:c.1887C>G ENSP00000448373.1:p.Pro629=
NM_001164749.1:c.1965C>G NP_001158221.1:p.Pro655=
NM_001165893.1:c.1875C>G NP_001159365.1:p.Pro625=
NM_022123.2:c.1869C>G NP_071406.1:p.Pro623=
NM_173159.2:c.1926C>G NP_775182.1:p.Pro642=
XM_005267991.2:c.1986C>G XP_005268048.1:p.Pro662=
XM_005267992.2:c.1980C>G XP_005268049.1:p.Pro660=
XM_005267993.2:c.1926C>G XP_005268050.1:p.Pro642=
XM_011537067.1:c.2016C>G XP_011535369.1:p.Pro672=
XM_011537068.1:c.2007C>G XP_011535370.1:p.Pro669=
XM_011537069.1:c.1977C>G XP_011535371.1:p.Pro659=
XM_011537070.1:c.1920C>G XP_011535372.1:p.Pro640=
XM_011537071.1:c.1887C>G XP_011535373.1:p.Pro629=
XM_011537072.1:c.1866C>G XP_011535374.1:p.Pro622=
XM_011537073.1:c.1659C>G XP_011535375.1:p.Pro553=
XM_011537074.1:c.1659C>G XP_011535376.1:p.Pro553=
XM_005267991.3:c.2073C>G XP_005268048.2:p.Pro691=
XM_005267992.3:c.2067C>G XP_005268049.2:p.Pro689=
XM_011537067.2:c.2016C>G XP_011535369.1:p.Pro672=
XM_011537069.2:c.2064C>G XP_011535371.2:p.Pro688=
XM_011537070.2:c.1920C>G XP_011535372.1:p.Pro640=
XM_011537071.2:c.1974C>G XP_011535373.2:p.Pro658=
XM_011537072.2:c.1866C>G XP_011535374.1:p.Pro622=
XM_017021582.1:c.2124C>G XP_016877071.1:p.Pro708=
XM_017021583.1:c.2115C>G XP_016877072.1:p.Pro705=
XM_017021584.1:c.2034C>G XP_016877073.1:p.Pro678=
XM_017021585.1:c.1983C>G XP_016877074.1:p.Pro661=
XM_017021586.1:c.1659C>G XP_016877075.1:p.Pro553=
XM_017021587.1:c.1659C>G XP_016877076.1:p.Pro553=
XM_017021588.1:c.1659C>G XP_016877077.1:p.Pro553=
NM_001164749.2:c.1965C>G MANE Select NP_001158221.1:p.Pro655=
NM_001165893.2:c.1875C>G NP_001159365.1:p.Pro625=
NM_022123.3:c.1869C>G NP_071406.1:p.Pro623=
NM_173159.3:c.1926C>G NP_775182.1:p.Pro642=
NM_001394988.1:c.1920C>G NP_001381917.1:p.Pro640=
NM_001394989.1:c.1866C>G NP_001381918.1:p.Pro622=