Canonical Allele Identifier: CA486092858
Gene: NPAS3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.34269376G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.33800170G>C , CM000676.2:g.33800170G>C GRCh38
NC_000014.8:g.34269376G>C , CM000676.1:g.34269376G>C GRCh37
NC_000014.7:g.33339127G>C NCBI36
NG_013036.1:g.865918G>C
NG_013036.2:g.865918G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356141.9:c.1863G>C MANE Select ENSP00000348460.4:p.Ser621=
ENST00000551634.6:c.1872G>C ENSP00000448373.2:p.Ser624=
ENST00000680362.1:c.1763G>C
ENST00000681323.1:c.793+2589G>C
ENST00000346562.6:c.1767G>C ENSP00000319610.5:p.Ser589=
ENST00000356141.8:c.1863G>C ENSP00000348460.4:p.Ser621=
ENST00000357798.9:c.1824G>C ENSP00000350446.5:p.Ser608=
ENST00000548645.5:c.1773G>C ENSP00000448916.1:p.Ser591=
ENST00000551492.5:c.1878G>C ENSP00000450392.1:p.Ser626=
ENST00000551634.5:c.1785G>C ENSP00000448373.1:p.Ser595=
NM_001164749.1:c.1863G>C NP_001158221.1:p.Ser621=
NM_001165893.1:c.1773G>C NP_001159365.1:p.Ser591=
NM_022123.2:c.1767G>C NP_071406.1:p.Ser589=
NM_173159.2:c.1824G>C NP_775182.1:p.Ser608=
XM_005267991.2:c.1884G>C XP_005268048.1:p.Ser628=
XM_005267992.2:c.1878G>C XP_005268049.1:p.Ser626=
XM_005267993.2:c.1824G>C XP_005268050.1:p.Ser608=
XM_011537067.1:c.1914G>C XP_011535369.1:p.Ser638=
XM_011537068.1:c.1905G>C XP_011535370.1:p.Ser635=
XM_011537069.1:c.1875G>C XP_011535371.1:p.Ser625=
XM_011537070.1:c.1818G>C XP_011535372.1:p.Ser606=
XM_011537071.1:c.1785G>C XP_011535373.1:p.Ser595=
XM_011537072.1:c.1764G>C XP_011535374.1:p.Ser588=
XM_011537073.1:c.1557G>C XP_011535375.1:p.Ser519=
XM_011537074.1:c.1557G>C XP_011535376.1:p.Ser519=
XM_005267991.3:c.1971G>C XP_005268048.2:p.Ser657=
XM_005267992.3:c.1965G>C XP_005268049.2:p.Ser655=
XM_011537067.2:c.1914G>C XP_011535369.1:p.Ser638=
XM_011537069.2:c.1962G>C XP_011535371.2:p.Ser654=
XM_011537070.2:c.1818G>C XP_011535372.1:p.Ser606=
XM_011537071.2:c.1872G>C XP_011535373.2:p.Ser624=
XM_011537072.2:c.1764G>C XP_011535374.1:p.Ser588=
XM_017021582.1:c.2022G>C XP_016877071.1:p.Ser674=
XM_017021583.1:c.2013G>C XP_016877072.1:p.Ser671=
XM_017021584.1:c.1932G>C XP_016877073.1:p.Ser644=
XM_017021585.1:c.1881G>C XP_016877074.1:p.Ser627=
XM_017021586.1:c.1557G>C XP_016877075.1:p.Ser519=
XM_017021587.1:c.1557G>C XP_016877076.1:p.Ser519=
XM_017021588.1:c.1557G>C XP_016877077.1:p.Ser519=
NM_001164749.2:c.1863G>C MANE Select NP_001158221.1:p.Ser621=
NM_001165893.2:c.1773G>C NP_001159365.1:p.Ser591=
NM_022123.3:c.1767G>C NP_071406.1:p.Ser589=
NM_173159.3:c.1824G>C NP_775182.1:p.Ser608=
NM_001394988.1:c.1818G>C NP_001381917.1:p.Ser606=
NM_001394989.1:c.1764G>C NP_001381918.1:p.Ser588=