Canonical Allele Identifier: CA389414231

Gene: NPAS3

Linked Data

• gnomAD v4: 14-33800529-C-G
• MyVariant Identifiers: chr14:g.34269735C>G (hg19) ; chr14:g.33800529C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800529C>G , CM000676.2:g.33800529C>G	GRCh38
NC_000014.8:g.34269735C>G , CM000676.1:g.34269735C>G	GRCh37
NC_000014.7:g.33339486C>G	NCBI36
NG_013036.1:g.866277C>G
NG_013036.2:g.866277C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.2222C>G MANE Select	ENSP00000348460.4:p.Pro741Arg
ENST00000551634.6:c.2231C>G	ENSP00000448373.2:p.Pro744Arg
ENST00000680362.1:c.2122C>G
ENST00000681323.1:c.793+2948C>G
ENST00000346562.6:c.2126C>G	ENSP00000319610.5:p.Pro709Arg
ENST00000356141.8:c.2222C>G	ENSP00000348460.4:p.Pro741Arg
ENST00000357798.9:c.2183C>G	ENSP00000350446.5:p.Pro728Arg
ENST00000548645.5:c.2132C>G	ENSP00000448916.1:p.Pro711Arg
ENST00000551492.5:c.2237C>G	ENSP00000450392.1:p.Pro746Arg
ENST00000551634.5:c.2144C>G	ENSP00000448373.1:p.Pro715Arg
NM_001164749.1:c.2222C>G	NP_001158221.1:p.Pro741Arg
NM_001165893.1:c.2132C>G	NP_001159365.1:p.Pro711Arg
NM_022123.2:c.2126C>G	NP_071406.1:p.Pro709Arg
NM_173159.2:c.2183C>G	NP_775182.1:p.Pro728Arg
XM_005267991.2:c.2243C>G	XP_005268048.1:p.Pro748Arg
XM_005267992.2:c.2237C>G	XP_005268049.1:p.Pro746Arg
XM_005267993.2:c.2183C>G	XP_005268050.1:p.Pro728Arg
XM_011537067.1:c.2273C>G	XP_011535369.1:p.Pro758Arg
XM_011537068.1:c.2264C>G	XP_011535370.1:p.Pro755Arg
XM_011537069.1:c.2234C>G	XP_011535371.1:p.Pro745Arg
XM_011537070.1:c.2177C>G	XP_011535372.1:p.Pro726Arg
XM_011537071.1:c.2144C>G	XP_011535373.1:p.Pro715Arg
XM_011537072.1:c.2123C>G	XP_011535374.1:p.Pro708Arg
XM_011537073.1:c.1916C>G	XP_011535375.1:p.Pro639Arg
XM_011537074.1:c.1916C>G	XP_011535376.1:p.Pro639Arg
XM_005267991.3:c.2330C>G	XP_005268048.2:p.Pro777Arg
XM_005267992.3:c.2324C>G	XP_005268049.2:p.Pro775Arg
XM_011537067.2:c.2273C>G	XP_011535369.1:p.Pro758Arg
XM_011537069.2:c.2321C>G	XP_011535371.2:p.Pro774Arg
XM_011537070.2:c.2177C>G	XP_011535372.1:p.Pro726Arg
XM_011537071.2:c.2231C>G	XP_011535373.2:p.Pro744Arg
XM_011537072.2:c.2123C>G	XP_011535374.1:p.Pro708Arg
XM_017021582.1:c.2381C>G	XP_016877071.1:p.Pro794Arg
XM_017021583.1:c.2372C>G	XP_016877072.1:p.Pro791Arg
XM_017021584.1:c.2291C>G	XP_016877073.1:p.Pro764Arg
XM_017021585.1:c.2240C>G	XP_016877074.1:p.Pro747Arg
XM_017021586.1:c.1916C>G	XP_016877075.1:p.Pro639Arg
XM_017021587.1:c.1916C>G	XP_016877076.1:p.Pro639Arg
XM_017021588.1:c.1916C>G	XP_016877077.1:p.Pro639Arg
NM_001164749.2:c.2222C>G MANE Select	NP_001158221.1:p.Pro741Arg
NM_001165893.2:c.2132C>G	NP_001159365.1:p.Pro711Arg
NM_022123.3:c.2126C>G	NP_071406.1:p.Pro709Arg
NM_173159.3:c.2183C>G	NP_775182.1:p.Pro728Arg
NM_001394988.1:c.2177C>G	NP_001381917.1:p.Pro726Arg
NM_001394989.1:c.2123C>G	NP_001381918.1:p.Pro708Arg