Canonical Allele Identifier: CA389413451

Gene: NPAS3

Linked Data

• gnomAD v4: 14-33800305-C-A
• MyVariant Identifiers: chr14:g.34269511C>A (hg19) ; chr14:g.33800305C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800305C>A , CM000676.2:g.33800305C>A	GRCh38
NC_000014.8:g.34269511C>A , CM000676.1:g.34269511C>A	GRCh37
NC_000014.7:g.33339262C>A	NCBI36
NG_013036.1:g.866053C>A
NG_013036.2:g.866053C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1998C>A MANE Select	ENSP00000348460.4:p.Asn666Lys
ENST00000551634.6:c.2007C>A	ENSP00000448373.2:p.Asn669Lys
ENST00000680362.1:c.1898C>A
ENST00000681323.1:c.793+2724C>A
ENST00000346562.6:c.1902C>A	ENSP00000319610.5:p.Asn634Lys
ENST00000356141.8:c.1998C>A	ENSP00000348460.4:p.Asn666Lys
ENST00000357798.9:c.1959C>A	ENSP00000350446.5:p.Asn653Lys
ENST00000548645.5:c.1908C>A	ENSP00000448916.1:p.Asn636Lys
ENST00000551492.5:c.2013C>A	ENSP00000450392.1:p.Asn671Lys
ENST00000551634.5:c.1920C>A	ENSP00000448373.1:p.Asn640Lys
NM_001164749.1:c.1998C>A	NP_001158221.1:p.Asn666Lys
NM_001165893.1:c.1908C>A	NP_001159365.1:p.Asn636Lys
NM_022123.2:c.1902C>A	NP_071406.1:p.Asn634Lys
NM_173159.2:c.1959C>A	NP_775182.1:p.Asn653Lys
XM_005267991.2:c.2019C>A	XP_005268048.1:p.Asn673Lys
XM_005267992.2:c.2013C>A	XP_005268049.1:p.Asn671Lys
XM_005267993.2:c.1959C>A	XP_005268050.1:p.Asn653Lys
XM_011537067.1:c.2049C>A	XP_011535369.1:p.Asn683Lys
XM_011537068.1:c.2040C>A	XP_011535370.1:p.Asn680Lys
XM_011537069.1:c.2010C>A	XP_011535371.1:p.Asn670Lys
XM_011537070.1:c.1953C>A	XP_011535372.1:p.Asn651Lys
XM_011537071.1:c.1920C>A	XP_011535373.1:p.Asn640Lys
XM_011537072.1:c.1899C>A	XP_011535374.1:p.Asn633Lys
XM_011537073.1:c.1692C>A	XP_011535375.1:p.Asn564Lys
XM_011537074.1:c.1692C>A	XP_011535376.1:p.Asn564Lys
XM_005267991.3:c.2106C>A	XP_005268048.2:p.Asn702Lys
XM_005267992.3:c.2100C>A	XP_005268049.2:p.Asn700Lys
XM_011537067.2:c.2049C>A	XP_011535369.1:p.Asn683Lys
XM_011537069.2:c.2097C>A	XP_011535371.2:p.Asn699Lys
XM_011537070.2:c.1953C>A	XP_011535372.1:p.Asn651Lys
XM_011537071.2:c.2007C>A	XP_011535373.2:p.Asn669Lys
XM_011537072.2:c.1899C>A	XP_011535374.1:p.Asn633Lys
XM_017021582.1:c.2157C>A	XP_016877071.1:p.Asn719Lys
XM_017021583.1:c.2148C>A	XP_016877072.1:p.Asn716Lys
XM_017021584.1:c.2067C>A	XP_016877073.1:p.Asn689Lys
XM_017021585.1:c.2016C>A	XP_016877074.1:p.Asn672Lys
XM_017021586.1:c.1692C>A	XP_016877075.1:p.Asn564Lys
XM_017021587.1:c.1692C>A	XP_016877076.1:p.Asn564Lys
XM_017021588.1:c.1692C>A	XP_016877077.1:p.Asn564Lys
NM_001164749.2:c.1998C>A MANE Select	NP_001158221.1:p.Asn666Lys
NM_001165893.2:c.1908C>A	NP_001159365.1:p.Asn636Lys
NM_022123.3:c.1902C>A	NP_071406.1:p.Asn634Lys
NM_173159.3:c.1959C>A	NP_775182.1:p.Asn653Lys
NM_001394988.1:c.1953C>A	NP_001381917.1:p.Asn651Lys
NM_001394989.1:c.1899C>A	NP_001381918.1:p.Asn633Lys