Canonical Allele Identifier: CA389414145

Gene: NPAS3

Linked Data

• gnomAD v4: 14-33800486-C-T
• MyVariant Identifiers: chr14:g.34269692C>T (hg19) ; chr14:g.33800486C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800486C>T , CM000676.2:g.33800486C>T	GRCh38
NC_000014.8:g.34269692C>T , CM000676.1:g.34269692C>T	GRCh37
NC_000014.7:g.33339443C>T	NCBI36
NG_013036.1:g.866234C>T
NG_013036.2:g.866234C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000356141.9:c.2179C>T MANE Select	ENSP00000348460.4:p.Arg727Cys
ENST00000551634.6:c.2188C>T	ENSP00000448373.2:p.Arg730Cys
ENST00000680362.1:c.2079C>T
ENST00000681323.1:c.793+2905C>T
ENST00000346562.6:c.2083C>T	ENSP00000319610.5:p.Arg695Cys
ENST00000356141.8:c.2179C>T	ENSP00000348460.4:p.Arg727Cys
ENST00000357798.9:c.2140C>T	ENSP00000350446.5:p.Arg714Cys
ENST00000548645.5:c.2089C>T	ENSP00000448916.1:p.Arg697Cys
ENST00000551492.5:c.2194C>T	ENSP00000450392.1:p.Arg732Cys
ENST00000551634.5:c.2101C>T	ENSP00000448373.1:p.Arg701Cys
NM_001164749.1:c.2179C>T	NP_001158221.1:p.Arg727Cys
NM_001165893.1:c.2089C>T	NP_001159365.1:p.Arg697Cys
NM_022123.2:c.2083C>T	NP_071406.1:p.Arg695Cys
NM_173159.2:c.2140C>T	NP_775182.1:p.Arg714Cys
XM_005267991.2:c.2200C>T	XP_005268048.1:p.Arg734Cys
XM_005267992.2:c.2194C>T	XP_005268049.1:p.Arg732Cys
XM_005267993.2:c.2140C>T	XP_005268050.1:p.Arg714Cys
XM_011537067.1:c.2230C>T	XP_011535369.1:p.Arg744Cys
XM_011537068.1:c.2221C>T	XP_011535370.1:p.Arg741Cys
XM_011537069.1:c.2191C>T	XP_011535371.1:p.Arg731Cys
XM_011537070.1:c.2134C>T	XP_011535372.1:p.Arg712Cys
XM_011537071.1:c.2101C>T	XP_011535373.1:p.Arg701Cys
XM_011537072.1:c.2080C>T	XP_011535374.1:p.Arg694Cys
XM_011537073.1:c.1873C>T	XP_011535375.1:p.Arg625Cys
XM_011537074.1:c.1873C>T	XP_011535376.1:p.Arg625Cys
XM_005267991.3:c.2287C>T	XP_005268048.2:p.Arg763Cys
XM_005267992.3:c.2281C>T	XP_005268049.2:p.Arg761Cys
XM_011537067.2:c.2230C>T	XP_011535369.1:p.Arg744Cys
XM_011537069.2:c.2278C>T	XP_011535371.2:p.Arg760Cys
XM_011537070.2:c.2134C>T	XP_011535372.1:p.Arg712Cys
XM_011537071.2:c.2188C>T	XP_011535373.2:p.Arg730Cys
XM_011537072.2:c.2080C>T	XP_011535374.1:p.Arg694Cys
XM_017021582.1:c.2338C>T	XP_016877071.1:p.Arg780Cys
XM_017021583.1:c.2329C>T	XP_016877072.1:p.Arg777Cys
XM_017021584.1:c.2248C>T	XP_016877073.1:p.Arg750Cys
XM_017021585.1:c.2197C>T	XP_016877074.1:p.Arg733Cys
XM_017021586.1:c.1873C>T	XP_016877075.1:p.Arg625Cys
XM_017021587.1:c.1873C>T	XP_016877076.1:p.Arg625Cys
XM_017021588.1:c.1873C>T	XP_016877077.1:p.Arg625Cys
NM_001164749.2:c.2179C>T MANE Select	NP_001158221.1:p.Arg727Cys
NM_001165893.2:c.2089C>T	NP_001159365.1:p.Arg697Cys
NM_022123.3:c.2083C>T	NP_071406.1:p.Arg695Cys
NM_173159.3:c.2140C>T	NP_775182.1:p.Arg714Cys
NM_001394988.1:c.2134C>T	NP_001381917.1:p.Arg712Cys
NM_001394989.1:c.2080C>T	NP_001381918.1:p.Arg694Cys