Canonical Allele Identifier: CA486093451
Gene: NPAS3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.34269793C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.33800587C>G , CM000676.2:g.33800587C>G GRCh38
NC_000014.8:g.34269793C>G , CM000676.1:g.34269793C>G GRCh37
NC_000014.7:g.33339544C>G NCBI36
NG_013036.1:g.866335C>G
NG_013036.2:g.866335C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000356141.9:c.2280C>G MANE Select ENSP00000348460.4:p.Pro760=
ENST00000551634.6:c.2289C>G ENSP00000448373.2:p.Pro763=
ENST00000680362.1:c.2180C>G
ENST00000681323.1:c.793+3006C>G
ENST00000346562.6:c.2184C>G ENSP00000319610.5:p.Pro728=
ENST00000356141.8:c.2280C>G ENSP00000348460.4:p.Pro760=
ENST00000357798.9:c.2241C>G ENSP00000350446.5:p.Pro747=
ENST00000548645.5:c.2190C>G ENSP00000448916.1:p.Pro730=
ENST00000551492.5:c.2295C>G ENSP00000450392.1:p.Pro765=
ENST00000551634.5:c.2202C>G ENSP00000448373.1:p.Pro734=
NM_001164749.1:c.2280C>G NP_001158221.1:p.Pro760=
NM_001165893.1:c.2190C>G NP_001159365.1:p.Pro730=
NM_022123.2:c.2184C>G NP_071406.1:p.Pro728=
NM_173159.2:c.2241C>G NP_775182.1:p.Pro747=
XM_005267991.2:c.2301C>G XP_005268048.1:p.Pro767=
XM_005267992.2:c.2295C>G XP_005268049.1:p.Pro765=
XM_005267993.2:c.2241C>G XP_005268050.1:p.Pro747=
XM_011537067.1:c.2331C>G XP_011535369.1:p.Pro777=
XM_011537068.1:c.2322C>G XP_011535370.1:p.Pro774=
XM_011537069.1:c.2292C>G XP_011535371.1:p.Pro764=
XM_011537070.1:c.2235C>G XP_011535372.1:p.Pro745=
XM_011537071.1:c.2202C>G XP_011535373.1:p.Pro734=
XM_011537072.1:c.2181C>G XP_011535374.1:p.Pro727=
XM_011537073.1:c.1974C>G XP_011535375.1:p.Pro658=
XM_011537074.1:c.1974C>G XP_011535376.1:p.Pro658=
XM_005267991.3:c.2388C>G XP_005268048.2:p.Pro796=
XM_005267992.3:c.2382C>G XP_005268049.2:p.Pro794=
XM_011537067.2:c.2331C>G XP_011535369.1:p.Pro777=
XM_011537069.2:c.2379C>G XP_011535371.2:p.Pro793=
XM_011537070.2:c.2235C>G XP_011535372.1:p.Pro745=
XM_011537071.2:c.2289C>G XP_011535373.2:p.Pro763=
XM_011537072.2:c.2181C>G XP_011535374.1:p.Pro727=
XM_017021582.1:c.2439C>G XP_016877071.1:p.Pro813=
XM_017021583.1:c.2430C>G XP_016877072.1:p.Pro810=
XM_017021584.1:c.2349C>G XP_016877073.1:p.Pro783=
XM_017021585.1:c.2298C>G XP_016877074.1:p.Pro766=
XM_017021586.1:c.1974C>G XP_016877075.1:p.Pro658=
XM_017021587.1:c.1974C>G XP_016877076.1:p.Pro658=
XM_017021588.1:c.1974C>G XP_016877077.1:p.Pro658=
NM_001164749.2:c.2280C>G MANE Select NP_001158221.1:p.Pro760=
NM_001165893.2:c.2190C>G NP_001159365.1:p.Pro730=
NM_022123.3:c.2184C>G NP_071406.1:p.Pro728=
NM_173159.3:c.2241C>G NP_775182.1:p.Pro747=
NM_001394988.1:c.2235C>G NP_001381917.1:p.Pro745=
NM_001394989.1:c.2181C>G NP_001381918.1:p.Pro727=