Canonical Allele Identifier: CA389414227

Gene: NPAS3

Linked Data

• gnomAD v4: 14-33800526-C-T
• MyVariant Identifiers: chr14:g.34269732C>T (hg19) ; chr14:g.33800526C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800526C>T , CM000676.2:g.33800526C>T	GRCh38
NC_000014.8:g.34269732C>T , CM000676.1:g.34269732C>T	GRCh37
NC_000014.7:g.33339483C>T	NCBI36
NG_013036.1:g.866274C>T
NG_013036.2:g.866274C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000356141.9:c.2219C>T MANE Select	ENSP00000348460.4:p.Ala740Val
ENST00000551634.6:c.2228C>T	ENSP00000448373.2:p.Ala743Val
ENST00000680362.1:c.2119C>T
ENST00000681323.1:c.793+2945C>T
ENST00000346562.6:c.2123C>T	ENSP00000319610.5:p.Ala708Val
ENST00000356141.8:c.2219C>T	ENSP00000348460.4:p.Ala740Val
ENST00000357798.9:c.2180C>T	ENSP00000350446.5:p.Ala727Val
ENST00000548645.5:c.2129C>T	ENSP00000448916.1:p.Ala710Val
ENST00000551492.5:c.2234C>T	ENSP00000450392.1:p.Ala745Val
ENST00000551634.5:c.2141C>T	ENSP00000448373.1:p.Ala714Val
NM_001164749.1:c.2219C>T	NP_001158221.1:p.Ala740Val
NM_001165893.1:c.2129C>T	NP_001159365.1:p.Ala710Val
NM_022123.2:c.2123C>T	NP_071406.1:p.Ala708Val
NM_173159.2:c.2180C>T	NP_775182.1:p.Ala727Val
XM_005267991.2:c.2240C>T	XP_005268048.1:p.Ala747Val
XM_005267992.2:c.2234C>T	XP_005268049.1:p.Ala745Val
XM_005267993.2:c.2180C>T	XP_005268050.1:p.Ala727Val
XM_011537067.1:c.2270C>T	XP_011535369.1:p.Ala757Val
XM_011537068.1:c.2261C>T	XP_011535370.1:p.Ala754Val
XM_011537069.1:c.2231C>T	XP_011535371.1:p.Ala744Val
XM_011537070.1:c.2174C>T	XP_011535372.1:p.Ala725Val
XM_011537071.1:c.2141C>T	XP_011535373.1:p.Ala714Val
XM_011537072.1:c.2120C>T	XP_011535374.1:p.Ala707Val
XM_011537073.1:c.1913C>T	XP_011535375.1:p.Ala638Val
XM_011537074.1:c.1913C>T	XP_011535376.1:p.Ala638Val
XM_005267991.3:c.2327C>T	XP_005268048.2:p.Ala776Val
XM_005267992.3:c.2321C>T	XP_005268049.2:p.Ala774Val
XM_011537067.2:c.2270C>T	XP_011535369.1:p.Ala757Val
XM_011537069.2:c.2318C>T	XP_011535371.2:p.Ala773Val
XM_011537070.2:c.2174C>T	XP_011535372.1:p.Ala725Val
XM_011537071.2:c.2228C>T	XP_011535373.2:p.Ala743Val
XM_011537072.2:c.2120C>T	XP_011535374.1:p.Ala707Val
XM_017021582.1:c.2378C>T	XP_016877071.1:p.Ala793Val
XM_017021583.1:c.2369C>T	XP_016877072.1:p.Ala790Val
XM_017021584.1:c.2288C>T	XP_016877073.1:p.Ala763Val
XM_017021585.1:c.2237C>T	XP_016877074.1:p.Ala746Val
XM_017021586.1:c.1913C>T	XP_016877075.1:p.Ala638Val
XM_017021587.1:c.1913C>T	XP_016877076.1:p.Ala638Val
XM_017021588.1:c.1913C>T	XP_016877077.1:p.Ala638Val
NM_001164749.2:c.2219C>T MANE Select	NP_001158221.1:p.Ala740Val
NM_001165893.2:c.2129C>T	NP_001159365.1:p.Ala710Val
NM_022123.3:c.2123C>T	NP_071406.1:p.Ala708Val
NM_173159.3:c.2180C>T	NP_775182.1:p.Ala727Val
NM_001394988.1:c.2174C>T	NP_001381917.1:p.Ala725Val
NM_001394989.1:c.2120C>T	NP_001381918.1:p.Ala707Val