Canonical Allele Identifier: CA486093077
Gene: NPAS3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.34269589G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.33800383G>T , CM000676.2:g.33800383G>T GRCh38
NC_000014.8:g.34269589G>T , CM000676.1:g.34269589G>T GRCh37
NC_000014.7:g.33339340G>T NCBI36
NG_013036.1:g.866131G>T
NG_013036.2:g.866131G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356141.9:c.2076G>T MANE Select ENSP00000348460.4:p.Pro692=
ENST00000551634.6:c.2085G>T ENSP00000448373.2:p.Pro695=
ENST00000680362.1:c.1976G>T
ENST00000681323.1:c.793+2802G>T
ENST00000346562.6:c.1980G>T ENSP00000319610.5:p.Pro660=
ENST00000356141.8:c.2076G>T ENSP00000348460.4:p.Pro692=
ENST00000357798.9:c.2037G>T ENSP00000350446.5:p.Pro679=
ENST00000548645.5:c.1986G>T ENSP00000448916.1:p.Pro662=
ENST00000551492.5:c.2091G>T ENSP00000450392.1:p.Pro697=
ENST00000551634.5:c.1998G>T ENSP00000448373.1:p.Pro666=
NM_001164749.1:c.2076G>T NP_001158221.1:p.Pro692=
NM_001165893.1:c.1986G>T NP_001159365.1:p.Pro662=
NM_022123.2:c.1980G>T NP_071406.1:p.Pro660=
NM_173159.2:c.2037G>T NP_775182.1:p.Pro679=
XM_005267991.2:c.2097G>T XP_005268048.1:p.Pro699=
XM_005267992.2:c.2091G>T XP_005268049.1:p.Pro697=
XM_005267993.2:c.2037G>T XP_005268050.1:p.Pro679=
XM_011537067.1:c.2127G>T XP_011535369.1:p.Pro709=
XM_011537068.1:c.2118G>T XP_011535370.1:p.Pro706=
XM_011537069.1:c.2088G>T XP_011535371.1:p.Pro696=
XM_011537070.1:c.2031G>T XP_011535372.1:p.Pro677=
XM_011537071.1:c.1998G>T XP_011535373.1:p.Pro666=
XM_011537072.1:c.1977G>T XP_011535374.1:p.Pro659=
XM_011537073.1:c.1770G>T XP_011535375.1:p.Pro590=
XM_011537074.1:c.1770G>T XP_011535376.1:p.Pro590=
XM_005267991.3:c.2184G>T XP_005268048.2:p.Pro728=
XM_005267992.3:c.2178G>T XP_005268049.2:p.Pro726=
XM_011537067.2:c.2127G>T XP_011535369.1:p.Pro709=
XM_011537069.2:c.2175G>T XP_011535371.2:p.Pro725=
XM_011537070.2:c.2031G>T XP_011535372.1:p.Pro677=
XM_011537071.2:c.2085G>T XP_011535373.2:p.Pro695=
XM_011537072.2:c.1977G>T XP_011535374.1:p.Pro659=
XM_017021582.1:c.2235G>T XP_016877071.1:p.Pro745=
XM_017021583.1:c.2226G>T XP_016877072.1:p.Pro742=
XM_017021584.1:c.2145G>T XP_016877073.1:p.Pro715=
XM_017021585.1:c.2094G>T XP_016877074.1:p.Pro698=
XM_017021586.1:c.1770G>T XP_016877075.1:p.Pro590=
XM_017021587.1:c.1770G>T XP_016877076.1:p.Pro590=
XM_017021588.1:c.1770G>T XP_016877077.1:p.Pro590=
NM_001164749.2:c.2076G>T MANE Select NP_001158221.1:p.Pro692=
NM_001165893.2:c.1986G>T NP_001159365.1:p.Pro662=
NM_022123.3:c.1980G>T NP_071406.1:p.Pro660=
NM_173159.3:c.2037G>T NP_775182.1:p.Pro679=
NM_001394988.1:c.2031G>T NP_001381917.1:p.Pro677=
NM_001394989.1:c.1977G>T NP_001381918.1:p.Pro659=