Canonical Allele Identifier: CA486092974
Gene: NPAS3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.34269463G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.33800257G>C , CM000676.2:g.33800257G>C GRCh38
NC_000014.8:g.34269463G>C , CM000676.1:g.34269463G>C GRCh37
NC_000014.7:g.33339214G>C NCBI36
NG_013036.1:g.866005G>C
NG_013036.2:g.866005G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356141.9:c.1950G>C MANE Select ENSP00000348460.4:p.Thr650=
ENST00000551634.6:c.1959G>C ENSP00000448373.2:p.Thr653=
ENST00000680362.1:c.1850G>C
ENST00000681323.1:c.793+2676G>C
ENST00000346562.6:c.1854G>C ENSP00000319610.5:p.Thr618=
ENST00000356141.8:c.1950G>C ENSP00000348460.4:p.Thr650=
ENST00000357798.9:c.1911G>C ENSP00000350446.5:p.Thr637=
ENST00000548645.5:c.1860G>C ENSP00000448916.1:p.Thr620=
ENST00000551492.5:c.1965G>C ENSP00000450392.1:p.Thr655=
ENST00000551634.5:c.1872G>C ENSP00000448373.1:p.Thr624=
NM_001164749.1:c.1950G>C NP_001158221.1:p.Thr650=
NM_001165893.1:c.1860G>C NP_001159365.1:p.Thr620=
NM_022123.2:c.1854G>C NP_071406.1:p.Thr618=
NM_173159.2:c.1911G>C NP_775182.1:p.Thr637=
XM_005267991.2:c.1971G>C XP_005268048.1:p.Thr657=
XM_005267992.2:c.1965G>C XP_005268049.1:p.Thr655=
XM_005267993.2:c.1911G>C XP_005268050.1:p.Thr637=
XM_011537067.1:c.2001G>C XP_011535369.1:p.Thr667=
XM_011537068.1:c.1992G>C XP_011535370.1:p.Thr664=
XM_011537069.1:c.1962G>C XP_011535371.1:p.Thr654=
XM_011537070.1:c.1905G>C XP_011535372.1:p.Thr635=
XM_011537071.1:c.1872G>C XP_011535373.1:p.Thr624=
XM_011537072.1:c.1851G>C XP_011535374.1:p.Thr617=
XM_011537073.1:c.1644G>C XP_011535375.1:p.Thr548=
XM_011537074.1:c.1644G>C XP_011535376.1:p.Thr548=
XM_005267991.3:c.2058G>C XP_005268048.2:p.Thr686=
XM_005267992.3:c.2052G>C XP_005268049.2:p.Thr684=
XM_011537067.2:c.2001G>C XP_011535369.1:p.Thr667=
XM_011537069.2:c.2049G>C XP_011535371.2:p.Thr683=
XM_011537070.2:c.1905G>C XP_011535372.1:p.Thr635=
XM_011537071.2:c.1959G>C XP_011535373.2:p.Thr653=
XM_011537072.2:c.1851G>C XP_011535374.1:p.Thr617=
XM_017021582.1:c.2109G>C XP_016877071.1:p.Thr703=
XM_017021583.1:c.2100G>C XP_016877072.1:p.Thr700=
XM_017021584.1:c.2019G>C XP_016877073.1:p.Thr673=
XM_017021585.1:c.1968G>C XP_016877074.1:p.Thr656=
XM_017021586.1:c.1644G>C XP_016877075.1:p.Thr548=
XM_017021587.1:c.1644G>C XP_016877076.1:p.Thr548=
XM_017021588.1:c.1644G>C XP_016877077.1:p.Thr548=
NM_001164749.2:c.1950G>C MANE Select NP_001158221.1:p.Thr650=
NM_001165893.2:c.1860G>C NP_001159365.1:p.Thr620=
NM_022123.3:c.1854G>C NP_071406.1:p.Thr618=
NM_173159.3:c.1911G>C NP_775182.1:p.Thr637=
NM_001394988.1:c.1905G>C NP_001381917.1:p.Thr635=
NM_001394989.1:c.1851G>C NP_001381918.1:p.Thr617=