Canonical Allele Identifier: CA389414143

Gene: NPAS3

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.2179C>A MANE Select	ENSP00000348460.4:p.Arg727Ser
ENST00000551634.6:c.2188C>A	ENSP00000448373.2:p.Arg730Ser
ENST00000680362.1:c.2079C>A
ENST00000681323.1:c.793+2905C>A
ENST00000346562.6:c.2083C>A	ENSP00000319610.5:p.Arg695Ser
ENST00000356141.8:c.2179C>A	ENSP00000348460.4:p.Arg727Ser
ENST00000357798.9:c.2140C>A	ENSP00000350446.5:p.Arg714Ser
ENST00000548645.5:c.2089C>A	ENSP00000448916.1:p.Arg697Ser
ENST00000551492.5:c.2194C>A	ENSP00000450392.1:p.Arg732Ser
ENST00000551634.5:c.2101C>A	ENSP00000448373.1:p.Arg701Ser
NM_001164749.1:c.2179C>A	NP_001158221.1:p.Arg727Ser
NM_001165893.1:c.2089C>A	NP_001159365.1:p.Arg697Ser
NM_022123.2:c.2083C>A	NP_071406.1:p.Arg695Ser
NM_173159.2:c.2140C>A	NP_775182.1:p.Arg714Ser
XM_005267991.2:c.2200C>A	XP_005268048.1:p.Arg734Ser
XM_005267992.2:c.2194C>A	XP_005268049.1:p.Arg732Ser
XM_005267993.2:c.2140C>A	XP_005268050.1:p.Arg714Ser
XM_011537067.1:c.2230C>A	XP_011535369.1:p.Arg744Ser
XM_011537068.1:c.2221C>A	XP_011535370.1:p.Arg741Ser
XM_011537069.1:c.2191C>A	XP_011535371.1:p.Arg731Ser
XM_011537070.1:c.2134C>A	XP_011535372.1:p.Arg712Ser
XM_011537071.1:c.2101C>A	XP_011535373.1:p.Arg701Ser
XM_011537072.1:c.2080C>A	XP_011535374.1:p.Arg694Ser
XM_011537073.1:c.1873C>A	XP_011535375.1:p.Arg625Ser
XM_011537074.1:c.1873C>A	XP_011535376.1:p.Arg625Ser
XM_005267991.3:c.2287C>A	XP_005268048.2:p.Arg763Ser
XM_005267992.3:c.2281C>A	XP_005268049.2:p.Arg761Ser
XM_011537067.2:c.2230C>A	XP_011535369.1:p.Arg744Ser
XM_011537069.2:c.2278C>A	XP_011535371.2:p.Arg760Ser
XM_011537070.2:c.2134C>A	XP_011535372.1:p.Arg712Ser
XM_011537071.2:c.2188C>A	XP_011535373.2:p.Arg730Ser
XM_011537072.2:c.2080C>A	XP_011535374.1:p.Arg694Ser
XM_017021582.1:c.2338C>A	XP_016877071.1:p.Arg780Ser
XM_017021583.1:c.2329C>A	XP_016877072.1:p.Arg777Ser
XM_017021584.1:c.2248C>A	XP_016877073.1:p.Arg750Ser
XM_017021585.1:c.2197C>A	XP_016877074.1:p.Arg733Ser
XM_017021586.1:c.1873C>A	XP_016877075.1:p.Arg625Ser
XM_017021587.1:c.1873C>A	XP_016877076.1:p.Arg625Ser
XM_017021588.1:c.1873C>A	XP_016877077.1:p.Arg625Ser
NM_001164749.2:c.2179C>A MANE Select	NP_001158221.1:p.Arg727Ser
NM_001165893.2:c.2089C>A	NP_001159365.1:p.Arg697Ser
NM_022123.3:c.2083C>A	NP_071406.1:p.Arg695Ser
NM_173159.3:c.2140C>A	NP_775182.1:p.Arg714Ser
NM_001394988.1:c.2134C>A	NP_001381917.1:p.Arg712Ser
NM_001394989.1:c.2080C>A	NP_001381918.1:p.Arg694Ser