Canonical Allele Identifier: CA389413259

Gene: NPAS3

Linked Data

• MyVariant Identifiers: chr14:g.34269470T>G (hg19) ; chr14:g.33800264T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800264T>G , CM000676.2:g.33800264T>G	GRCh38
NC_000014.8:g.34269470T>G , CM000676.1:g.34269470T>G	GRCh37
NC_000014.7:g.33339221T>G	NCBI36
NG_013036.1:g.866012T>G
NG_013036.2:g.866012T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1957T>G MANE Select	ENSP00000348460.4:p.Ser653Ala
ENST00000551634.6:c.1966T>G	ENSP00000448373.2:p.Ser656Ala
ENST00000680362.1:c.1857T>G
ENST00000681323.1:c.793+2683T>G
ENST00000346562.6:c.1861T>G	ENSP00000319610.5:p.Ser621Ala
ENST00000356141.8:c.1957T>G	ENSP00000348460.4:p.Ser653Ala
ENST00000357798.9:c.1918T>G	ENSP00000350446.5:p.Ser640Ala
ENST00000548645.5:c.1867T>G	ENSP00000448916.1:p.Ser623Ala
ENST00000551492.5:c.1972T>G	ENSP00000450392.1:p.Ser658Ala
ENST00000551634.5:c.1879T>G	ENSP00000448373.1:p.Ser627Ala
NM_001164749.1:c.1957T>G	NP_001158221.1:p.Ser653Ala
NM_001165893.1:c.1867T>G	NP_001159365.1:p.Ser623Ala
NM_022123.2:c.1861T>G	NP_071406.1:p.Ser621Ala
NM_173159.2:c.1918T>G	NP_775182.1:p.Ser640Ala
XM_005267991.2:c.1978T>G	XP_005268048.1:p.Ser660Ala
XM_005267992.2:c.1972T>G	XP_005268049.1:p.Ser658Ala
XM_005267993.2:c.1918T>G	XP_005268050.1:p.Ser640Ala
XM_011537067.1:c.2008T>G	XP_011535369.1:p.Ser670Ala
XM_011537068.1:c.1999T>G	XP_011535370.1:p.Ser667Ala
XM_011537069.1:c.1969T>G	XP_011535371.1:p.Ser657Ala
XM_011537070.1:c.1912T>G	XP_011535372.1:p.Ser638Ala
XM_011537071.1:c.1879T>G	XP_011535373.1:p.Ser627Ala
XM_011537072.1:c.1858T>G	XP_011535374.1:p.Ser620Ala
XM_011537073.1:c.1651T>G	XP_011535375.1:p.Ser551Ala
XM_011537074.1:c.1651T>G	XP_011535376.1:p.Ser551Ala
XM_005267991.3:c.2065T>G	XP_005268048.2:p.Ser689Ala
XM_005267992.3:c.2059T>G	XP_005268049.2:p.Ser687Ala
XM_011537067.2:c.2008T>G	XP_011535369.1:p.Ser670Ala
XM_011537069.2:c.2056T>G	XP_011535371.2:p.Ser686Ala
XM_011537070.2:c.1912T>G	XP_011535372.1:p.Ser638Ala
XM_011537071.2:c.1966T>G	XP_011535373.2:p.Ser656Ala
XM_011537072.2:c.1858T>G	XP_011535374.1:p.Ser620Ala
XM_017021582.1:c.2116T>G	XP_016877071.1:p.Ser706Ala
XM_017021583.1:c.2107T>G	XP_016877072.1:p.Ser703Ala
XM_017021584.1:c.2026T>G	XP_016877073.1:p.Ser676Ala
XM_017021585.1:c.1975T>G	XP_016877074.1:p.Ser659Ala
XM_017021586.1:c.1651T>G	XP_016877075.1:p.Ser551Ala
XM_017021587.1:c.1651T>G	XP_016877076.1:p.Ser551Ala
XM_017021588.1:c.1651T>G	XP_016877077.1:p.Ser551Ala
NM_001164749.2:c.1957T>G MANE Select	NP_001158221.1:p.Ser653Ala
NM_001165893.2:c.1867T>G	NP_001159365.1:p.Ser623Ala
NM_022123.3:c.1861T>G	NP_071406.1:p.Ser621Ala
NM_173159.3:c.1918T>G	NP_775182.1:p.Ser640Ala
NM_001394988.1:c.1912T>G	NP_001381917.1:p.Ser638Ala
NM_001394989.1:c.1858T>G	NP_001381918.1:p.Ser620Ala