Canonical Allele Identifier: CA486093191
Gene: NPAS3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.34269667G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.33800461G>C , CM000676.2:g.33800461G>C GRCh38
NC_000014.8:g.34269667G>C , CM000676.1:g.34269667G>C GRCh37
NC_000014.7:g.33339418G>C NCBI36
NG_013036.1:g.866209G>C
NG_013036.2:g.866209G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356141.9:c.2154G>C MANE Select ENSP00000348460.4:p.Pro718=
ENST00000551634.6:c.2163G>C ENSP00000448373.2:p.Pro721=
ENST00000680362.1:c.2054G>C
ENST00000681323.1:c.793+2880G>C
ENST00000346562.6:c.2058G>C ENSP00000319610.5:p.Pro686=
ENST00000356141.8:c.2154G>C ENSP00000348460.4:p.Pro718=
ENST00000357798.9:c.2115G>C ENSP00000350446.5:p.Pro705=
ENST00000548645.5:c.2064G>C ENSP00000448916.1:p.Pro688=
ENST00000551492.5:c.2169G>C ENSP00000450392.1:p.Pro723=
ENST00000551634.5:c.2076G>C ENSP00000448373.1:p.Pro692=
NM_001164749.1:c.2154G>C NP_001158221.1:p.Pro718=
NM_001165893.1:c.2064G>C NP_001159365.1:p.Pro688=
NM_022123.2:c.2058G>C NP_071406.1:p.Pro686=
NM_173159.2:c.2115G>C NP_775182.1:p.Pro705=
XM_005267991.2:c.2175G>C XP_005268048.1:p.Pro725=
XM_005267992.2:c.2169G>C XP_005268049.1:p.Pro723=
XM_005267993.2:c.2115G>C XP_005268050.1:p.Pro705=
XM_011537067.1:c.2205G>C XP_011535369.1:p.Pro735=
XM_011537068.1:c.2196G>C XP_011535370.1:p.Pro732=
XM_011537069.1:c.2166G>C XP_011535371.1:p.Pro722=
XM_011537070.1:c.2109G>C XP_011535372.1:p.Pro703=
XM_011537071.1:c.2076G>C XP_011535373.1:p.Pro692=
XM_011537072.1:c.2055G>C XP_011535374.1:p.Pro685=
XM_011537073.1:c.1848G>C XP_011535375.1:p.Pro616=
XM_011537074.1:c.1848G>C XP_011535376.1:p.Pro616=
XM_005267991.3:c.2262G>C XP_005268048.2:p.Pro754=
XM_005267992.3:c.2256G>C XP_005268049.2:p.Pro752=
XM_011537067.2:c.2205G>C XP_011535369.1:p.Pro735=
XM_011537069.2:c.2253G>C XP_011535371.2:p.Pro751=
XM_011537070.2:c.2109G>C XP_011535372.1:p.Pro703=
XM_011537071.2:c.2163G>C XP_011535373.2:p.Pro721=
XM_011537072.2:c.2055G>C XP_011535374.1:p.Pro685=
XM_017021582.1:c.2313G>C XP_016877071.1:p.Pro771=
XM_017021583.1:c.2304G>C XP_016877072.1:p.Pro768=
XM_017021584.1:c.2223G>C XP_016877073.1:p.Pro741=
XM_017021585.1:c.2172G>C XP_016877074.1:p.Pro724=
XM_017021586.1:c.1848G>C XP_016877075.1:p.Pro616=
XM_017021587.1:c.1848G>C XP_016877076.1:p.Pro616=
XM_017021588.1:c.1848G>C XP_016877077.1:p.Pro616=
NM_001164749.2:c.2154G>C MANE Select NP_001158221.1:p.Pro718=
NM_001165893.2:c.2064G>C NP_001159365.1:p.Pro688=
NM_022123.3:c.2058G>C NP_071406.1:p.Pro686=
NM_173159.3:c.2115G>C NP_775182.1:p.Pro705=
NM_001394988.1:c.2109G>C NP_001381917.1:p.Pro703=
NM_001394989.1:c.2055G>C NP_001381918.1:p.Pro685=