Canonical Allele Identifier: CA389412724

Gene: NPAS3

Linked Data

• MyVariant Identifiers: chr14:g.34269348C>G (hg19) ; chr14:g.33800142C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800142C>G , CM000676.2:g.33800142C>G	GRCh38
NC_000014.8:g.34269348C>G , CM000676.1:g.34269348C>G	GRCh37
NC_000014.7:g.33339099C>G	NCBI36
NG_013036.1:g.865890C>G
NG_013036.2:g.865890C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1835C>G MANE Select	ENSP00000348460.4:p.Ala612Gly
ENST00000551634.6:c.1844C>G	ENSP00000448373.2:p.Ala615Gly
ENST00000680362.1:c.1735C>G
ENST00000681323.1:c.793+2561C>G
ENST00000346562.6:c.1739C>G	ENSP00000319610.5:p.Ala580Gly
ENST00000356141.8:c.1835C>G	ENSP00000348460.4:p.Ala612Gly
ENST00000357798.9:c.1796C>G	ENSP00000350446.5:p.Ala599Gly
ENST00000548645.5:c.1745C>G	ENSP00000448916.1:p.Ala582Gly
ENST00000551492.5:c.1850C>G	ENSP00000450392.1:p.Ala617Gly
ENST00000551634.5:c.1757C>G	ENSP00000448373.1:p.Ala586Gly
NM_001164749.1:c.1835C>G	NP_001158221.1:p.Ala612Gly
NM_001165893.1:c.1745C>G	NP_001159365.1:p.Ala582Gly
NM_022123.2:c.1739C>G	NP_071406.1:p.Ala580Gly
NM_173159.2:c.1796C>G	NP_775182.1:p.Ala599Gly
XM_005267991.2:c.1856C>G	XP_005268048.1:p.Ala619Gly
XM_005267992.2:c.1850C>G	XP_005268049.1:p.Ala617Gly
XM_005267993.2:c.1796C>G	XP_005268050.1:p.Ala599Gly
XM_011537067.1:c.1886C>G	XP_011535369.1:p.Ala629Gly
XM_011537068.1:c.1877C>G	XP_011535370.1:p.Ala626Gly
XM_011537069.1:c.1847C>G	XP_011535371.1:p.Ala616Gly
XM_011537070.1:c.1790C>G	XP_011535372.1:p.Ala597Gly
XM_011537071.1:c.1757C>G	XP_011535373.1:p.Ala586Gly
XM_011537072.1:c.1736C>G	XP_011535374.1:p.Ala579Gly
XM_011537073.1:c.1529C>G	XP_011535375.1:p.Ala510Gly
XM_011537074.1:c.1529C>G	XP_011535376.1:p.Ala510Gly
XM_005267991.3:c.1943C>G	XP_005268048.2:p.Ala648Gly
XM_005267992.3:c.1937C>G	XP_005268049.2:p.Ala646Gly
XM_011537067.2:c.1886C>G	XP_011535369.1:p.Ala629Gly
XM_011537069.2:c.1934C>G	XP_011535371.2:p.Ala645Gly
XM_011537070.2:c.1790C>G	XP_011535372.1:p.Ala597Gly
XM_011537071.2:c.1844C>G	XP_011535373.2:p.Ala615Gly
XM_011537072.2:c.1736C>G	XP_011535374.1:p.Ala579Gly
XM_017021582.1:c.1994C>G	XP_016877071.1:p.Ala665Gly
XM_017021583.1:c.1985C>G	XP_016877072.1:p.Ala662Gly
XM_017021584.1:c.1904C>G	XP_016877073.1:p.Ala635Gly
XM_017021585.1:c.1853C>G	XP_016877074.1:p.Ala618Gly
XM_017021586.1:c.1529C>G	XP_016877075.1:p.Ala510Gly
XM_017021587.1:c.1529C>G	XP_016877076.1:p.Ala510Gly
XM_017021588.1:c.1529C>G	XP_016877077.1:p.Ala510Gly
NM_001164749.2:c.1835C>G MANE Select	NP_001158221.1:p.Ala612Gly
NM_001165893.2:c.1745C>G	NP_001159365.1:p.Ala582Gly
NM_022123.3:c.1739C>G	NP_071406.1:p.Ala580Gly
NM_173159.3:c.1796C>G	NP_775182.1:p.Ala599Gly
NM_001394988.1:c.1790C>G	NP_001381917.1:p.Ala597Gly
NM_001394989.1:c.1736C>G	NP_001381918.1:p.Ala579Gly