Canonical Allele Identifier: CA389414134

Gene: NPAS3

Linked Data

• dbSNP Id: rs2063669993
• gnomAD v4: 14-33800481-C-A
• MyVariant Identifiers: chr14:g.34269687C>A (hg19) ; chr14:g.33800481C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800481C>A , CM000676.2:g.33800481C>A	GRCh38
NC_000014.8:g.34269687C>A , CM000676.1:g.34269687C>A	GRCh37
NC_000014.7:g.33339438C>A	NCBI36
NG_013036.1:g.866229C>A
NG_013036.2:g.866229C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.2174C>A MANE Select	ENSP00000348460.4:p.Ala725Asp
ENST00000551634.6:c.2183C>A	ENSP00000448373.2:p.Ala728Asp
ENST00000680362.1:c.2074C>A
ENST00000681323.1:c.793+2900C>A
ENST00000346562.6:c.2078C>A	ENSP00000319610.5:p.Ala693Asp
ENST00000356141.8:c.2174C>A	ENSP00000348460.4:p.Ala725Asp
ENST00000357798.9:c.2135C>A	ENSP00000350446.5:p.Ala712Asp
ENST00000548645.5:c.2084C>A	ENSP00000448916.1:p.Ala695Asp
ENST00000551492.5:c.2189C>A	ENSP00000450392.1:p.Ala730Asp
ENST00000551634.5:c.2096C>A	ENSP00000448373.1:p.Ala699Asp
NM_001164749.1:c.2174C>A	NP_001158221.1:p.Ala725Asp
NM_001165893.1:c.2084C>A	NP_001159365.1:p.Ala695Asp
NM_022123.2:c.2078C>A	NP_071406.1:p.Ala693Asp
NM_173159.2:c.2135C>A	NP_775182.1:p.Ala712Asp
XM_005267991.2:c.2195C>A	XP_005268048.1:p.Ala732Asp
XM_005267992.2:c.2189C>A	XP_005268049.1:p.Ala730Asp
XM_005267993.2:c.2135C>A	XP_005268050.1:p.Ala712Asp
XM_011537067.1:c.2225C>A	XP_011535369.1:p.Ala742Asp
XM_011537068.1:c.2216C>A	XP_011535370.1:p.Ala739Asp
XM_011537069.1:c.2186C>A	XP_011535371.1:p.Ala729Asp
XM_011537070.1:c.2129C>A	XP_011535372.1:p.Ala710Asp
XM_011537071.1:c.2096C>A	XP_011535373.1:p.Ala699Asp
XM_011537072.1:c.2075C>A	XP_011535374.1:p.Ala692Asp
XM_011537073.1:c.1868C>A	XP_011535375.1:p.Ala623Asp
XM_011537074.1:c.1868C>A	XP_011535376.1:p.Ala623Asp
XM_005267991.3:c.2282C>A	XP_005268048.2:p.Ala761Asp
XM_005267992.3:c.2276C>A	XP_005268049.2:p.Ala759Asp
XM_011537067.2:c.2225C>A	XP_011535369.1:p.Ala742Asp
XM_011537069.2:c.2273C>A	XP_011535371.2:p.Ala758Asp
XM_011537070.2:c.2129C>A	XP_011535372.1:p.Ala710Asp
XM_011537071.2:c.2183C>A	XP_011535373.2:p.Ala728Asp
XM_011537072.2:c.2075C>A	XP_011535374.1:p.Ala692Asp
XM_017021582.1:c.2333C>A	XP_016877071.1:p.Ala778Asp
XM_017021583.1:c.2324C>A	XP_016877072.1:p.Ala775Asp
XM_017021584.1:c.2243C>A	XP_016877073.1:p.Ala748Asp
XM_017021585.1:c.2192C>A	XP_016877074.1:p.Ala731Asp
XM_017021586.1:c.1868C>A	XP_016877075.1:p.Ala623Asp
XM_017021587.1:c.1868C>A	XP_016877076.1:p.Ala623Asp
XM_017021588.1:c.1868C>A	XP_016877077.1:p.Ala623Asp
NM_001164749.2:c.2174C>A MANE Select	NP_001158221.1:p.Ala725Asp
NM_001165893.2:c.2084C>A	NP_001159365.1:p.Ala695Asp
NM_022123.3:c.2078C>A	NP_071406.1:p.Ala693Asp
NM_173159.3:c.2135C>A	NP_775182.1:p.Ala712Asp
NM_001394988.1:c.2129C>A	NP_001381917.1:p.Ala710Asp
NM_001394989.1:c.2075C>A	NP_001381918.1:p.Ala692Asp