Canonical Allele Identifier: CA486093152
Gene: NPAS3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.34269640G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.33800434G>C , CM000676.2:g.33800434G>C GRCh38
NC_000014.8:g.34269640G>C , CM000676.1:g.34269640G>C GRCh37
NC_000014.7:g.33339391G>C NCBI36
NG_013036.1:g.866182G>C
NG_013036.2:g.866182G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000356141.9:c.2127G>C MANE Select ENSP00000348460.4:p.Val709=
ENST00000551634.6:c.2136G>C ENSP00000448373.2:p.Val712=
ENST00000680362.1:c.2027G>C
ENST00000681323.1:c.793+2853G>C
ENST00000346562.6:c.2031G>C ENSP00000319610.5:p.Val677=
ENST00000356141.8:c.2127G>C ENSP00000348460.4:p.Val709=
ENST00000357798.9:c.2088G>C ENSP00000350446.5:p.Val696=
ENST00000548645.5:c.2037G>C ENSP00000448916.1:p.Val679=
ENST00000551492.5:c.2142G>C ENSP00000450392.1:p.Val714=
ENST00000551634.5:c.2049G>C ENSP00000448373.1:p.Val683=
NM_001164749.1:c.2127G>C NP_001158221.1:p.Val709=
NM_001165893.1:c.2037G>C NP_001159365.1:p.Val679=
NM_022123.2:c.2031G>C NP_071406.1:p.Val677=
NM_173159.2:c.2088G>C NP_775182.1:p.Val696=
XM_005267991.2:c.2148G>C XP_005268048.1:p.Val716=
XM_005267992.2:c.2142G>C XP_005268049.1:p.Val714=
XM_005267993.2:c.2088G>C XP_005268050.1:p.Val696=
XM_011537067.1:c.2178G>C XP_011535369.1:p.Val726=
XM_011537068.1:c.2169G>C XP_011535370.1:p.Val723=
XM_011537069.1:c.2139G>C XP_011535371.1:p.Val713=
XM_011537070.1:c.2082G>C XP_011535372.1:p.Val694=
XM_011537071.1:c.2049G>C XP_011535373.1:p.Val683=
XM_011537072.1:c.2028G>C XP_011535374.1:p.Val676=
XM_011537073.1:c.1821G>C XP_011535375.1:p.Val607=
XM_011537074.1:c.1821G>C XP_011535376.1:p.Val607=
XM_005267991.3:c.2235G>C XP_005268048.2:p.Val745=
XM_005267992.3:c.2229G>C XP_005268049.2:p.Val743=
XM_011537067.2:c.2178G>C XP_011535369.1:p.Val726=
XM_011537069.2:c.2226G>C XP_011535371.2:p.Val742=
XM_011537070.2:c.2082G>C XP_011535372.1:p.Val694=
XM_011537071.2:c.2136G>C XP_011535373.2:p.Val712=
XM_011537072.2:c.2028G>C XP_011535374.1:p.Val676=
XM_017021582.1:c.2286G>C XP_016877071.1:p.Val762=
XM_017021583.1:c.2277G>C XP_016877072.1:p.Val759=
XM_017021584.1:c.2196G>C XP_016877073.1:p.Val732=
XM_017021585.1:c.2145G>C XP_016877074.1:p.Val715=
XM_017021586.1:c.1821G>C XP_016877075.1:p.Val607=
XM_017021587.1:c.1821G>C XP_016877076.1:p.Val607=
XM_017021588.1:c.1821G>C XP_016877077.1:p.Val607=
NM_001164749.2:c.2127G>C MANE Select NP_001158221.1:p.Val709=
NM_001165893.2:c.2037G>C NP_001159365.1:p.Val679=
NM_022123.3:c.2031G>C NP_071406.1:p.Val677=
NM_173159.3:c.2088G>C NP_775182.1:p.Val696=
NM_001394988.1:c.2082G>C NP_001381917.1:p.Val694=
NM_001394989.1:c.2028G>C NP_001381918.1:p.Val676=