Canonical Allele Identifier: CA258718617

Gene: NPAS3

Linked Data

• dbSNP Id: rs890595014
• gnomAD v4: 14-33800077-C-T
• MyVariant Identifiers: chr14:g.34269283C>T (hg19) ; chr14:g.33800077C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800077C>T , CM000676.2:g.33800077C>T	GRCh38
NC_000014.8:g.34269283C>T , CM000676.1:g.34269283C>T	GRCh37
NC_000014.7:g.33339034C>T	NCBI36
NG_013036.1:g.865825C>T
NG_013036.2:g.865825C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1770C>T MANE Select	ENSP00000348460.4:p.Gly590=
ENST00000551634.6:c.1779C>T	ENSP00000448373.2:p.Gly593=
ENST00000680362.1:c.1670C>T
ENST00000681323.1:c.793+2496C>T
ENST00000346562.6:c.1674C>T	ENSP00000319610.5:p.Gly558=
ENST00000356141.8:c.1770C>T	ENSP00000348460.4:p.Gly590=
ENST00000357798.9:c.1731C>T	ENSP00000350446.5:p.Gly577=
ENST00000548645.5:c.1680C>T	ENSP00000448916.1:p.Gly560=
ENST00000551492.5:c.1785C>T	ENSP00000450392.1:p.Gly595=
ENST00000551634.5:c.1692C>T	ENSP00000448373.1:p.Gly564=
NM_001164749.1:c.1770C>T	NP_001158221.1:p.Gly590=
NM_001165893.1:c.1680C>T	NP_001159365.1:p.Gly560=
NM_022123.2:c.1674C>T	NP_071406.1:p.Gly558=
NM_173159.2:c.1731C>T	NP_775182.1:p.Gly577=
XM_005267991.2:c.1791C>T	XP_005268048.1:p.Gly597=
XM_005267992.2:c.1785C>T	XP_005268049.1:p.Gly595=
XM_005267993.2:c.1731C>T	XP_005268050.1:p.Gly577=
XM_011537067.1:c.1821C>T	XP_011535369.1:p.Gly607=
XM_011537068.1:c.1812C>T	XP_011535370.1:p.Gly604=
XM_011537069.1:c.1782C>T	XP_011535371.1:p.Gly594=
XM_011537070.1:c.1725C>T	XP_011535372.1:p.Gly575=
XM_011537071.1:c.1692C>T	XP_011535373.1:p.Gly564=
XM_011537072.1:c.1671C>T	XP_011535374.1:p.Gly557=
XM_011537073.1:c.1464C>T	XP_011535375.1:p.Gly488=
XM_011537074.1:c.1464C>T	XP_011535376.1:p.Gly488=
XM_005267991.3:c.1878C>T	XP_005268048.2:p.Gly626=
XM_005267992.3:c.1872C>T	XP_005268049.2:p.Gly624=
XM_011537067.2:c.1821C>T	XP_011535369.1:p.Gly607=
XM_011537069.2:c.1869C>T	XP_011535371.2:p.Gly623=
XM_011537070.2:c.1725C>T	XP_011535372.1:p.Gly575=
XM_011537071.2:c.1779C>T	XP_011535373.2:p.Gly593=
XM_011537072.2:c.1671C>T	XP_011535374.1:p.Gly557=
XM_017021582.1:c.1929C>T	XP_016877071.1:p.Gly643=
XM_017021583.1:c.1920C>T	XP_016877072.1:p.Gly640=
XM_017021584.1:c.1839C>T	XP_016877073.1:p.Gly613=
XM_017021585.1:c.1788C>T	XP_016877074.1:p.Gly596=
XM_017021586.1:c.1464C>T	XP_016877075.1:p.Gly488=
XM_017021587.1:c.1464C>T	XP_016877076.1:p.Gly488=
XM_017021588.1:c.1464C>T	XP_016877077.1:p.Gly488=
NM_001164749.2:c.1770C>T MANE Select	NP_001158221.1:p.Gly590=
NM_001165893.2:c.1680C>T	NP_001159365.1:p.Gly560=
NM_022123.3:c.1674C>T	NP_071406.1:p.Gly558=
NM_173159.3:c.1731C>T	NP_775182.1:p.Gly577=
NM_001394988.1:c.1725C>T	NP_001381917.1:p.Gly575=
NM_001394989.1:c.1671C>T	NP_001381918.1:p.Gly557=