Canonical Allele Identifier: CA389413417

Gene: NPAS3

Linked Data

• gnomAD v4: 14-33800297-A-G
• MyVariant Identifiers: chr14:g.34269503A>G (hg19) ; chr14:g.33800297A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800297A>G , CM000676.2:g.33800297A>G	GRCh38
NC_000014.8:g.34269503A>G , CM000676.1:g.34269503A>G	GRCh37
NC_000014.7:g.33339254A>G	NCBI36
NG_013036.1:g.866045A>G
NG_013036.2:g.866045A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1990A>G MANE Select	ENSP00000348460.4:p.Ile664Val
ENST00000551634.6:c.1999A>G	ENSP00000448373.2:p.Ile667Val
ENST00000680362.1:c.1890A>G
ENST00000681323.1:c.793+2716A>G
ENST00000346562.6:c.1894A>G	ENSP00000319610.5:p.Ile632Val
ENST00000356141.8:c.1990A>G	ENSP00000348460.4:p.Ile664Val
ENST00000357798.9:c.1951A>G	ENSP00000350446.5:p.Ile651Val
ENST00000548645.5:c.1900A>G	ENSP00000448916.1:p.Ile634Val
ENST00000551492.5:c.2005A>G	ENSP00000450392.1:p.Ile669Val
ENST00000551634.5:c.1912A>G	ENSP00000448373.1:p.Ile638Val
NM_001164749.1:c.1990A>G	NP_001158221.1:p.Ile664Val
NM_001165893.1:c.1900A>G	NP_001159365.1:p.Ile634Val
NM_022123.2:c.1894A>G	NP_071406.1:p.Ile632Val
NM_173159.2:c.1951A>G	NP_775182.1:p.Ile651Val
XM_005267991.2:c.2011A>G	XP_005268048.1:p.Ile671Val
XM_005267992.2:c.2005A>G	XP_005268049.1:p.Ile669Val
XM_005267993.2:c.1951A>G	XP_005268050.1:p.Ile651Val
XM_011537067.1:c.2041A>G	XP_011535369.1:p.Ile681Val
XM_011537068.1:c.2032A>G	XP_011535370.1:p.Ile678Val
XM_011537069.1:c.2002A>G	XP_011535371.1:p.Ile668Val
XM_011537070.1:c.1945A>G	XP_011535372.1:p.Ile649Val
XM_011537071.1:c.1912A>G	XP_011535373.1:p.Ile638Val
XM_011537072.1:c.1891A>G	XP_011535374.1:p.Ile631Val
XM_011537073.1:c.1684A>G	XP_011535375.1:p.Ile562Val
XM_011537074.1:c.1684A>G	XP_011535376.1:p.Ile562Val
XM_005267991.3:c.2098A>G	XP_005268048.2:p.Ile700Val
XM_005267992.3:c.2092A>G	XP_005268049.2:p.Ile698Val
XM_011537067.2:c.2041A>G	XP_011535369.1:p.Ile681Val
XM_011537069.2:c.2089A>G	XP_011535371.2:p.Ile697Val
XM_011537070.2:c.1945A>G	XP_011535372.1:p.Ile649Val
XM_011537071.2:c.1999A>G	XP_011535373.2:p.Ile667Val
XM_011537072.2:c.1891A>G	XP_011535374.1:p.Ile631Val
XM_017021582.1:c.2149A>G	XP_016877071.1:p.Ile717Val
XM_017021583.1:c.2140A>G	XP_016877072.1:p.Ile714Val
XM_017021584.1:c.2059A>G	XP_016877073.1:p.Ile687Val
XM_017021585.1:c.2008A>G	XP_016877074.1:p.Ile670Val
XM_017021586.1:c.1684A>G	XP_016877075.1:p.Ile562Val
XM_017021587.1:c.1684A>G	XP_016877076.1:p.Ile562Val
XM_017021588.1:c.1684A>G	XP_016877077.1:p.Ile562Val
NM_001164749.2:c.1990A>G MANE Select	NP_001158221.1:p.Ile664Val
NM_001165893.2:c.1900A>G	NP_001159365.1:p.Ile634Val
NM_022123.3:c.1894A>G	NP_071406.1:p.Ile632Val
NM_173159.3:c.1951A>G	NP_775182.1:p.Ile651Val
NM_001394988.1:c.1945A>G	NP_001381917.1:p.Ile649Val
NM_001394989.1:c.1891A>G	NP_001381918.1:p.Ile631Val