Canonical Allele Identifier: CA389412218

Gene: NPAS3

Linked Data

• gnomAD v4: 14-33800063-G-T
• MyVariant Identifiers: chr14:g.34269269G>T (hg19) ; chr14:g.33800063G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800063G>T , CM000676.2:g.33800063G>T	GRCh38
NC_000014.8:g.34269269G>T , CM000676.1:g.34269269G>T	GRCh37
NC_000014.7:g.33339020G>T	NCBI36
NG_013036.1:g.865811G>T
NG_013036.2:g.865811G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1756G>T MANE Select	ENSP00000348460.4:p.Ala586Ser
ENST00000551634.6:c.1765G>T	ENSP00000448373.2:p.Ala589Ser
ENST00000680362.1:c.1656G>T
ENST00000681323.1:c.793+2482G>T
ENST00000346562.6:c.1660G>T	ENSP00000319610.5:p.Ala554Ser
ENST00000356141.8:c.1756G>T	ENSP00000348460.4:p.Ala586Ser
ENST00000357798.9:c.1717G>T	ENSP00000350446.5:p.Ala573Ser
ENST00000548645.5:c.1666G>T	ENSP00000448916.1:p.Ala556Ser
ENST00000551492.5:c.1771G>T	ENSP00000450392.1:p.Ala591Ser
ENST00000551634.5:c.1678G>T	ENSP00000448373.1:p.Ala560Ser
NM_001164749.1:c.1756G>T	NP_001158221.1:p.Ala586Ser
NM_001165893.1:c.1666G>T	NP_001159365.1:p.Ala556Ser
NM_022123.2:c.1660G>T	NP_071406.1:p.Ala554Ser
NM_173159.2:c.1717G>T	NP_775182.1:p.Ala573Ser
XM_005267991.2:c.1777G>T	XP_005268048.1:p.Ala593Ser
XM_005267992.2:c.1771G>T	XP_005268049.1:p.Ala591Ser
XM_005267993.2:c.1717G>T	XP_005268050.1:p.Ala573Ser
XM_011537067.1:c.1807G>T	XP_011535369.1:p.Ala603Ser
XM_011537068.1:c.1798G>T	XP_011535370.1:p.Ala600Ser
XM_011537069.1:c.1768G>T	XP_011535371.1:p.Ala590Ser
XM_011537070.1:c.1711G>T	XP_011535372.1:p.Ala571Ser
XM_011537071.1:c.1678G>T	XP_011535373.1:p.Ala560Ser
XM_011537072.1:c.1657G>T	XP_011535374.1:p.Ala553Ser
XM_011537073.1:c.1450G>T	XP_011535375.1:p.Ala484Ser
XM_011537074.1:c.1450G>T	XP_011535376.1:p.Ala484Ser
XM_005267991.3:c.1864G>T	XP_005268048.2:p.Ala622Ser
XM_005267992.3:c.1858G>T	XP_005268049.2:p.Ala620Ser
XM_011537067.2:c.1807G>T	XP_011535369.1:p.Ala603Ser
XM_011537069.2:c.1855G>T	XP_011535371.2:p.Ala619Ser
XM_011537070.2:c.1711G>T	XP_011535372.1:p.Ala571Ser
XM_011537071.2:c.1765G>T	XP_011535373.2:p.Ala589Ser
XM_011537072.2:c.1657G>T	XP_011535374.1:p.Ala553Ser
XM_017021582.1:c.1915G>T	XP_016877071.1:p.Ala639Ser
XM_017021583.1:c.1906G>T	XP_016877072.1:p.Ala636Ser
XM_017021584.1:c.1825G>T	XP_016877073.1:p.Ala609Ser
XM_017021585.1:c.1774G>T	XP_016877074.1:p.Ala592Ser
XM_017021586.1:c.1450G>T	XP_016877075.1:p.Ala484Ser
XM_017021587.1:c.1450G>T	XP_016877076.1:p.Ala484Ser
XM_017021588.1:c.1450G>T	XP_016877077.1:p.Ala484Ser
NM_001164749.2:c.1756G>T MANE Select	NP_001158221.1:p.Ala586Ser
NM_001165893.2:c.1666G>T	NP_001159365.1:p.Ala556Ser
NM_022123.3:c.1660G>T	NP_071406.1:p.Ala554Ser
NM_173159.3:c.1717G>T	NP_775182.1:p.Ala573Ser
NM_001394988.1:c.1711G>T	NP_001381917.1:p.Ala571Ser
NM_001394989.1:c.1657G>T	NP_001381918.1:p.Ala553Ser