Canonical Allele Identifier: CA389414214

Gene: NPAS3

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000356141.9:c.2212G>T MANE Select	ENSP00000348460.4:p.Ala738Ser
ENST00000551634.6:c.2221G>T	ENSP00000448373.2:p.Ala741Ser
ENST00000680362.1:c.2112G>T
ENST00000681323.1:c.793+2938G>T
ENST00000346562.6:c.2116G>T	ENSP00000319610.5:p.Ala706Ser
ENST00000356141.8:c.2212G>T	ENSP00000348460.4:p.Ala738Ser
ENST00000357798.9:c.2173G>T	ENSP00000350446.5:p.Ala725Ser
ENST00000548645.5:c.2122G>T	ENSP00000448916.1:p.Ala708Ser
ENST00000551492.5:c.2227G>T	ENSP00000450392.1:p.Ala743Ser
ENST00000551634.5:c.2134G>T	ENSP00000448373.1:p.Ala712Ser
NM_001164749.1:c.2212G>T	NP_001158221.1:p.Ala738Ser
NM_001165893.1:c.2122G>T	NP_001159365.1:p.Ala708Ser
NM_022123.2:c.2116G>T	NP_071406.1:p.Ala706Ser
NM_173159.2:c.2173G>T	NP_775182.1:p.Ala725Ser
XM_005267991.2:c.2233G>T	XP_005268048.1:p.Ala745Ser
XM_005267992.2:c.2227G>T	XP_005268049.1:p.Ala743Ser
XM_005267993.2:c.2173G>T	XP_005268050.1:p.Ala725Ser
XM_011537067.1:c.2263G>T	XP_011535369.1:p.Ala755Ser
XM_011537068.1:c.2254G>T	XP_011535370.1:p.Ala752Ser
XM_011537069.1:c.2224G>T	XP_011535371.1:p.Ala742Ser
XM_011537070.1:c.2167G>T	XP_011535372.1:p.Ala723Ser
XM_011537071.1:c.2134G>T	XP_011535373.1:p.Ala712Ser
XM_011537072.1:c.2113G>T	XP_011535374.1:p.Ala705Ser
XM_011537073.1:c.1906G>T	XP_011535375.1:p.Ala636Ser
XM_011537074.1:c.1906G>T	XP_011535376.1:p.Ala636Ser
XM_005267991.3:c.2320G>T	XP_005268048.2:p.Ala774Ser
XM_005267992.3:c.2314G>T	XP_005268049.2:p.Ala772Ser
XM_011537067.2:c.2263G>T	XP_011535369.1:p.Ala755Ser
XM_011537069.2:c.2311G>T	XP_011535371.2:p.Ala771Ser
XM_011537070.2:c.2167G>T	XP_011535372.1:p.Ala723Ser
XM_011537071.2:c.2221G>T	XP_011535373.2:p.Ala741Ser
XM_011537072.2:c.2113G>T	XP_011535374.1:p.Ala705Ser
XM_017021582.1:c.2371G>T	XP_016877071.1:p.Ala791Ser
XM_017021583.1:c.2362G>T	XP_016877072.1:p.Ala788Ser
XM_017021584.1:c.2281G>T	XP_016877073.1:p.Ala761Ser
XM_017021585.1:c.2230G>T	XP_016877074.1:p.Ala744Ser
XM_017021586.1:c.1906G>T	XP_016877075.1:p.Ala636Ser
XM_017021587.1:c.1906G>T	XP_016877076.1:p.Ala636Ser
XM_017021588.1:c.1906G>T	XP_016877077.1:p.Ala636Ser
NM_001164749.2:c.2212G>T MANE Select	NP_001158221.1:p.Ala738Ser
NM_001165893.2:c.2122G>T	NP_001159365.1:p.Ala708Ser
NM_022123.3:c.2116G>T	NP_071406.1:p.Ala706Ser
NM_173159.3:c.2173G>T	NP_775182.1:p.Ala725Ser
NM_001394988.1:c.2167G>T	NP_001381917.1:p.Ala723Ser
NM_001394989.1:c.2113G>T	NP_001381918.1:p.Ala705Ser