Canonical Allele Identifier: CA7150932

Gene: NPAS3

Linked Data

• dbSNP Id: rs576037399
• ExAC: 14:34269588 C / G
• gnomAD v2: 14-34269588-C-G
• gnomAD v4: 14-33800382-C-G
• MyVariant Identifiers: chr14:g.34269588C>G (hg19) ; chr14:g.33800382C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800382C>G , CM000676.2:g.33800382C>G	GRCh38
NC_000014.8:g.34269588C>G , CM000676.1:g.34269588C>G	GRCh37
NC_000014.7:g.33339339C>G	NCBI36
NG_013036.1:g.866130C>G
NG_013036.2:g.866130C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.2075C>G MANE Select	ENSP00000348460.4:p.Pro692Arg
ENST00000551634.6:c.2084C>G	ENSP00000448373.2:p.Pro695Arg
ENST00000680362.1:c.1975C>G
ENST00000681323.1:c.793+2801C>G
ENST00000346562.6:c.1979C>G	ENSP00000319610.5:p.Pro660Arg
ENST00000356141.8:c.2075C>G	ENSP00000348460.4:p.Pro692Arg
ENST00000357798.9:c.2036C>G	ENSP00000350446.5:p.Pro679Arg
ENST00000548645.5:c.1985C>G	ENSP00000448916.1:p.Pro662Arg
ENST00000551492.5:c.2090C>G	ENSP00000450392.1:p.Pro697Arg
ENST00000551634.5:c.1997C>G	ENSP00000448373.1:p.Pro666Arg
NM_001164749.1:c.2075C>G	NP_001158221.1:p.Pro692Arg
NM_001165893.1:c.1985C>G	NP_001159365.1:p.Pro662Arg
NM_022123.2:c.1979C>G	NP_071406.1:p.Pro660Arg
NM_173159.2:c.2036C>G	NP_775182.1:p.Pro679Arg
XM_005267991.2:c.2096C>G	XP_005268048.1:p.Pro699Arg
XM_005267992.2:c.2090C>G	XP_005268049.1:p.Pro697Arg
XM_005267993.2:c.2036C>G	XP_005268050.1:p.Pro679Arg
XM_011537067.1:c.2126C>G	XP_011535369.1:p.Pro709Arg
XM_011537068.1:c.2117C>G	XP_011535370.1:p.Pro706Arg
XM_011537069.1:c.2087C>G	XP_011535371.1:p.Pro696Arg
XM_011537070.1:c.2030C>G	XP_011535372.1:p.Pro677Arg
XM_011537071.1:c.1997C>G	XP_011535373.1:p.Pro666Arg
XM_011537072.1:c.1976C>G	XP_011535374.1:p.Pro659Arg
XM_011537073.1:c.1769C>G	XP_011535375.1:p.Pro590Arg
XM_011537074.1:c.1769C>G	XP_011535376.1:p.Pro590Arg
XM_005267991.3:c.2183C>G	XP_005268048.2:p.Pro728Arg
XM_005267992.3:c.2177C>G	XP_005268049.2:p.Pro726Arg
XM_011537067.2:c.2126C>G	XP_011535369.1:p.Pro709Arg
XM_011537069.2:c.2174C>G	XP_011535371.2:p.Pro725Arg
XM_011537070.2:c.2030C>G	XP_011535372.1:p.Pro677Arg
XM_011537071.2:c.2084C>G	XP_011535373.2:p.Pro695Arg
XM_011537072.2:c.1976C>G	XP_011535374.1:p.Pro659Arg
XM_017021582.1:c.2234C>G	XP_016877071.1:p.Pro745Arg
XM_017021583.1:c.2225C>G	XP_016877072.1:p.Pro742Arg
XM_017021584.1:c.2144C>G	XP_016877073.1:p.Pro715Arg
XM_017021585.1:c.2093C>G	XP_016877074.1:p.Pro698Arg
XM_017021586.1:c.1769C>G	XP_016877075.1:p.Pro590Arg
XM_017021587.1:c.1769C>G	XP_016877076.1:p.Pro590Arg
XM_017021588.1:c.1769C>G	XP_016877077.1:p.Pro590Arg
NM_001164749.2:c.2075C>G MANE Select	NP_001158221.1:p.Pro692Arg
NM_001165893.2:c.1985C>G	NP_001159365.1:p.Pro662Arg
NM_022123.3:c.1979C>G	NP_071406.1:p.Pro660Arg
NM_173159.3:c.2036C>G	NP_775182.1:p.Pro679Arg
NM_001394988.1:c.2030C>G	NP_001381917.1:p.Pro677Arg
NM_001394989.1:c.1976C>G	NP_001381918.1:p.Pro659Arg