Canonical Allele Identifier: CA486092847
Gene: NPAS3 HGNC NCBI

Linked Data

dbSNP Id: rs1595642517
MyVariant Identifiers: chr14:g.34269367C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.33800161C>T , CM000676.2:g.33800161C>T GRCh38
NC_000014.8:g.34269367C>T , CM000676.1:g.34269367C>T GRCh37
NC_000014.7:g.33339118C>T NCBI36
NG_013036.1:g.865909C>T
NG_013036.2:g.865909C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356141.9:c.1854C>T MANE Select ENSP00000348460.4:p.Ser618=
ENST00000551634.6:c.1863C>T ENSP00000448373.2:p.Ser621=
ENST00000680362.1:c.1754C>T
ENST00000681323.1:c.793+2580C>T
ENST00000346562.6:c.1758C>T ENSP00000319610.5:p.Ser586=
ENST00000356141.8:c.1854C>T ENSP00000348460.4:p.Ser618=
ENST00000357798.9:c.1815C>T ENSP00000350446.5:p.Ser605=
ENST00000548645.5:c.1764C>T ENSP00000448916.1:p.Ser588=
ENST00000551492.5:c.1869C>T ENSP00000450392.1:p.Ser623=
ENST00000551634.5:c.1776C>T ENSP00000448373.1:p.Ser592=
NM_001164749.1:c.1854C>T NP_001158221.1:p.Ser618=
NM_001165893.1:c.1764C>T NP_001159365.1:p.Ser588=
NM_022123.2:c.1758C>T NP_071406.1:p.Ser586=
NM_173159.2:c.1815C>T NP_775182.1:p.Ser605=
XM_005267991.2:c.1875C>T XP_005268048.1:p.Ser625=
XM_005267992.2:c.1869C>T XP_005268049.1:p.Ser623=
XM_005267993.2:c.1815C>T XP_005268050.1:p.Ser605=
XM_011537067.1:c.1905C>T XP_011535369.1:p.Ser635=
XM_011537068.1:c.1896C>T XP_011535370.1:p.Ser632=
XM_011537069.1:c.1866C>T XP_011535371.1:p.Ser622=
XM_011537070.1:c.1809C>T XP_011535372.1:p.Ser603=
XM_011537071.1:c.1776C>T XP_011535373.1:p.Ser592=
XM_011537072.1:c.1755C>T XP_011535374.1:p.Ser585=
XM_011537073.1:c.1548C>T XP_011535375.1:p.Ser516=
XM_011537074.1:c.1548C>T XP_011535376.1:p.Ser516=
XM_005267991.3:c.1962C>T XP_005268048.2:p.Ser654=
XM_005267992.3:c.1956C>T XP_005268049.2:p.Ser652=
XM_011537067.2:c.1905C>T XP_011535369.1:p.Ser635=
XM_011537069.2:c.1953C>T XP_011535371.2:p.Ser651=
XM_011537070.2:c.1809C>T XP_011535372.1:p.Ser603=
XM_011537071.2:c.1863C>T XP_011535373.2:p.Ser621=
XM_011537072.2:c.1755C>T XP_011535374.1:p.Ser585=
XM_017021582.1:c.2013C>T XP_016877071.1:p.Ser671=
XM_017021583.1:c.2004C>T XP_016877072.1:p.Ser668=
XM_017021584.1:c.1923C>T XP_016877073.1:p.Ser641=
XM_017021585.1:c.1872C>T XP_016877074.1:p.Ser624=
XM_017021586.1:c.1548C>T XP_016877075.1:p.Ser516=
XM_017021587.1:c.1548C>T XP_016877076.1:p.Ser516=
XM_017021588.1:c.1548C>T XP_016877077.1:p.Ser516=
NM_001164749.2:c.1854C>T MANE Select NP_001158221.1:p.Ser618=
NM_001165893.2:c.1764C>T NP_001159365.1:p.Ser588=
NM_022123.3:c.1758C>T NP_071406.1:p.Ser586=
NM_173159.3:c.1815C>T NP_775182.1:p.Ser605=
NM_001394988.1:c.1809C>T NP_001381917.1:p.Ser603=
NM_001394989.1:c.1755C>T NP_001381918.1:p.Ser585=