Canonical Allele Identifier: CA486092957
Gene: NPAS3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.34269448G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.33800242G>C , CM000676.2:g.33800242G>C GRCh38
NC_000014.8:g.34269448G>C , CM000676.1:g.34269448G>C GRCh37
NC_000014.7:g.33339199G>C NCBI36
NG_013036.1:g.865990G>C
NG_013036.2:g.865990G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356141.9:c.1935G>C MANE Select ENSP00000348460.4:p.Val645=
ENST00000551634.6:c.1944G>C ENSP00000448373.2:p.Val648=
ENST00000680362.1:c.1835G>C
ENST00000681323.1:c.793+2661G>C
ENST00000346562.6:c.1839G>C ENSP00000319610.5:p.Val613=
ENST00000356141.8:c.1935G>C ENSP00000348460.4:p.Val645=
ENST00000357798.9:c.1896G>C ENSP00000350446.5:p.Val632=
ENST00000548645.5:c.1845G>C ENSP00000448916.1:p.Val615=
ENST00000551492.5:c.1950G>C ENSP00000450392.1:p.Val650=
ENST00000551634.5:c.1857G>C ENSP00000448373.1:p.Val619=
NM_001164749.1:c.1935G>C NP_001158221.1:p.Val645=
NM_001165893.1:c.1845G>C NP_001159365.1:p.Val615=
NM_022123.2:c.1839G>C NP_071406.1:p.Val613=
NM_173159.2:c.1896G>C NP_775182.1:p.Val632=
XM_005267991.2:c.1956G>C XP_005268048.1:p.Val652=
XM_005267992.2:c.1950G>C XP_005268049.1:p.Val650=
XM_005267993.2:c.1896G>C XP_005268050.1:p.Val632=
XM_011537067.1:c.1986G>C XP_011535369.1:p.Val662=
XM_011537068.1:c.1977G>C XP_011535370.1:p.Val659=
XM_011537069.1:c.1947G>C XP_011535371.1:p.Val649=
XM_011537070.1:c.1890G>C XP_011535372.1:p.Val630=
XM_011537071.1:c.1857G>C XP_011535373.1:p.Val619=
XM_011537072.1:c.1836G>C XP_011535374.1:p.Val612=
XM_011537073.1:c.1629G>C XP_011535375.1:p.Val543=
XM_011537074.1:c.1629G>C XP_011535376.1:p.Val543=
XM_005267991.3:c.2043G>C XP_005268048.2:p.Val681=
XM_005267992.3:c.2037G>C XP_005268049.2:p.Val679=
XM_011537067.2:c.1986G>C XP_011535369.1:p.Val662=
XM_011537069.2:c.2034G>C XP_011535371.2:p.Val678=
XM_011537070.2:c.1890G>C XP_011535372.1:p.Val630=
XM_011537071.2:c.1944G>C XP_011535373.2:p.Val648=
XM_011537072.2:c.1836G>C XP_011535374.1:p.Val612=
XM_017021582.1:c.2094G>C XP_016877071.1:p.Val698=
XM_017021583.1:c.2085G>C XP_016877072.1:p.Val695=
XM_017021584.1:c.2004G>C XP_016877073.1:p.Val668=
XM_017021585.1:c.1953G>C XP_016877074.1:p.Val651=
XM_017021586.1:c.1629G>C XP_016877075.1:p.Val543=
XM_017021587.1:c.1629G>C XP_016877076.1:p.Val543=
XM_017021588.1:c.1629G>C XP_016877077.1:p.Val543=
NM_001164749.2:c.1935G>C MANE Select NP_001158221.1:p.Val645=
NM_001165893.2:c.1845G>C NP_001159365.1:p.Val615=
NM_022123.3:c.1839G>C NP_071406.1:p.Val613=
NM_173159.3:c.1896G>C NP_775182.1:p.Val632=
NM_001394988.1:c.1890G>C NP_001381917.1:p.Val630=
NM_001394989.1:c.1836G>C NP_001381918.1:p.Val612=