Canonical Allele Identifier: CA389414212

Gene: NPAS3

Linked Data

• gnomAD v4: 14-33800519-G-A
• MyVariant Identifiers: chr14:g.34269725G>A (hg19) ; chr14:g.33800519G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800519G>A , CM000676.2:g.33800519G>A	GRCh38
NC_000014.8:g.34269725G>A , CM000676.1:g.34269725G>A	GRCh37
NC_000014.7:g.33339476G>A	NCBI36
NG_013036.1:g.866267G>A
NG_013036.2:g.866267G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000356141.9:c.2212G>A MANE Select	ENSP00000348460.4:p.Ala738Thr
ENST00000551634.6:c.2221G>A	ENSP00000448373.2:p.Ala741Thr
ENST00000680362.1:c.2112G>A
ENST00000681323.1:c.793+2938G>A
ENST00000346562.6:c.2116G>A	ENSP00000319610.5:p.Ala706Thr
ENST00000356141.8:c.2212G>A	ENSP00000348460.4:p.Ala738Thr
ENST00000357798.9:c.2173G>A	ENSP00000350446.5:p.Ala725Thr
ENST00000548645.5:c.2122G>A	ENSP00000448916.1:p.Ala708Thr
ENST00000551492.5:c.2227G>A	ENSP00000450392.1:p.Ala743Thr
ENST00000551634.5:c.2134G>A	ENSP00000448373.1:p.Ala712Thr
NM_001164749.1:c.2212G>A	NP_001158221.1:p.Ala738Thr
NM_001165893.1:c.2122G>A	NP_001159365.1:p.Ala708Thr
NM_022123.2:c.2116G>A	NP_071406.1:p.Ala706Thr
NM_173159.2:c.2173G>A	NP_775182.1:p.Ala725Thr
XM_005267991.2:c.2233G>A	XP_005268048.1:p.Ala745Thr
XM_005267992.2:c.2227G>A	XP_005268049.1:p.Ala743Thr
XM_005267993.2:c.2173G>A	XP_005268050.1:p.Ala725Thr
XM_011537067.1:c.2263G>A	XP_011535369.1:p.Ala755Thr
XM_011537068.1:c.2254G>A	XP_011535370.1:p.Ala752Thr
XM_011537069.1:c.2224G>A	XP_011535371.1:p.Ala742Thr
XM_011537070.1:c.2167G>A	XP_011535372.1:p.Ala723Thr
XM_011537071.1:c.2134G>A	XP_011535373.1:p.Ala712Thr
XM_011537072.1:c.2113G>A	XP_011535374.1:p.Ala705Thr
XM_011537073.1:c.1906G>A	XP_011535375.1:p.Ala636Thr
XM_011537074.1:c.1906G>A	XP_011535376.1:p.Ala636Thr
XM_005267991.3:c.2320G>A	XP_005268048.2:p.Ala774Thr
XM_005267992.3:c.2314G>A	XP_005268049.2:p.Ala772Thr
XM_011537067.2:c.2263G>A	XP_011535369.1:p.Ala755Thr
XM_011537069.2:c.2311G>A	XP_011535371.2:p.Ala771Thr
XM_011537070.2:c.2167G>A	XP_011535372.1:p.Ala723Thr
XM_011537071.2:c.2221G>A	XP_011535373.2:p.Ala741Thr
XM_011537072.2:c.2113G>A	XP_011535374.1:p.Ala705Thr
XM_017021582.1:c.2371G>A	XP_016877071.1:p.Ala791Thr
XM_017021583.1:c.2362G>A	XP_016877072.1:p.Ala788Thr
XM_017021584.1:c.2281G>A	XP_016877073.1:p.Ala761Thr
XM_017021585.1:c.2230G>A	XP_016877074.1:p.Ala744Thr
XM_017021586.1:c.1906G>A	XP_016877075.1:p.Ala636Thr
XM_017021587.1:c.1906G>A	XP_016877076.1:p.Ala636Thr
XM_017021588.1:c.1906G>A	XP_016877077.1:p.Ala636Thr
NM_001164749.2:c.2212G>A MANE Select	NP_001158221.1:p.Ala738Thr
NM_001165893.2:c.2122G>A	NP_001159365.1:p.Ala708Thr
NM_022123.3:c.2116G>A	NP_071406.1:p.Ala706Thr
NM_173159.3:c.2173G>A	NP_775182.1:p.Ala725Thr
NM_001394988.1:c.2167G>A	NP_001381917.1:p.Ala723Thr
NM_001394989.1:c.2113G>A	NP_001381918.1:p.Ala705Thr