Canonical Allele Identifier: CA389413411
Gene: NPAS3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.33800295G>T , CM000676.2:g.33800295G>T GRCh38
NC_000014.8:g.34269501G>T , CM000676.1:g.34269501G>T GRCh37
NC_000014.7:g.33339252G>T NCBI36
NG_013036.1:g.866043G>T
NG_013036.2:g.866043G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356141.9:c.1988G>T MANE Select ENSP00000348460.4:p.Ser663Ile
ENST00000551634.6:c.1997G>T ENSP00000448373.2:p.Ser666Ile
ENST00000680362.1:c.1888G>T
ENST00000681323.1:c.793+2714G>T
ENST00000346562.6:c.1892G>T ENSP00000319610.5:p.Ser631Ile
ENST00000356141.8:c.1988G>T ENSP00000348460.4:p.Ser663Ile
ENST00000357798.9:c.1949G>T ENSP00000350446.5:p.Ser650Ile
ENST00000548645.5:c.1898G>T ENSP00000448916.1:p.Ser633Ile
ENST00000551492.5:c.2003G>T ENSP00000450392.1:p.Ser668Ile
ENST00000551634.5:c.1910G>T ENSP00000448373.1:p.Ser637Ile
NM_001164749.1:c.1988G>T NP_001158221.1:p.Ser663Ile
NM_001165893.1:c.1898G>T NP_001159365.1:p.Ser633Ile
NM_022123.2:c.1892G>T NP_071406.1:p.Ser631Ile
NM_173159.2:c.1949G>T NP_775182.1:p.Ser650Ile
XM_005267991.2:c.2009G>T XP_005268048.1:p.Ser670Ile
XM_005267992.2:c.2003G>T XP_005268049.1:p.Ser668Ile
XM_005267993.2:c.1949G>T XP_005268050.1:p.Ser650Ile
XM_011537067.1:c.2039G>T XP_011535369.1:p.Ser680Ile
XM_011537068.1:c.2030G>T XP_011535370.1:p.Ser677Ile
XM_011537069.1:c.2000G>T XP_011535371.1:p.Ser667Ile
XM_011537070.1:c.1943G>T XP_011535372.1:p.Ser648Ile
XM_011537071.1:c.1910G>T XP_011535373.1:p.Ser637Ile
XM_011537072.1:c.1889G>T XP_011535374.1:p.Ser630Ile
XM_011537073.1:c.1682G>T XP_011535375.1:p.Ser561Ile
XM_011537074.1:c.1682G>T XP_011535376.1:p.Ser561Ile
XM_005267991.3:c.2096G>T XP_005268048.2:p.Ser699Ile
XM_005267992.3:c.2090G>T XP_005268049.2:p.Ser697Ile
XM_011537067.2:c.2039G>T XP_011535369.1:p.Ser680Ile
XM_011537069.2:c.2087G>T XP_011535371.2:p.Ser696Ile
XM_011537070.2:c.1943G>T XP_011535372.1:p.Ser648Ile
XM_011537071.2:c.1997G>T XP_011535373.2:p.Ser666Ile
XM_011537072.2:c.1889G>T XP_011535374.1:p.Ser630Ile
XM_017021582.1:c.2147G>T XP_016877071.1:p.Ser716Ile
XM_017021583.1:c.2138G>T XP_016877072.1:p.Ser713Ile
XM_017021584.1:c.2057G>T XP_016877073.1:p.Ser686Ile
XM_017021585.1:c.2006G>T XP_016877074.1:p.Ser669Ile
XM_017021586.1:c.1682G>T XP_016877075.1:p.Ser561Ile
XM_017021587.1:c.1682G>T XP_016877076.1:p.Ser561Ile
XM_017021588.1:c.1682G>T XP_016877077.1:p.Ser561Ile
NM_001164749.2:c.1988G>T MANE Select NP_001158221.1:p.Ser663Ile
NM_001165893.2:c.1898G>T NP_001159365.1:p.Ser633Ile
NM_022123.3:c.1892G>T NP_071406.1:p.Ser631Ile
NM_173159.3:c.1949G>T NP_775182.1:p.Ser650Ile
NM_001394988.1:c.1943G>T NP_001381917.1:p.Ser648Ile
NM_001394989.1:c.1889G>T NP_001381918.1:p.Ser630Ile