Canonical Allele Identifier: CA389413407

Gene: NPAS3

Linked Data

• gnomAD v4: 14-33800295-G-A
• MyVariant Identifiers: chr14:g.34269501G>A (hg19) ; chr14:g.33800295G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800295G>A , CM000676.2:g.33800295G>A	GRCh38
NC_000014.8:g.34269501G>A , CM000676.1:g.34269501G>A	GRCh37
NC_000014.7:g.33339252G>A	NCBI36
NG_013036.1:g.866043G>A
NG_013036.2:g.866043G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1988G>A MANE Select	ENSP00000348460.4:p.Ser663Asn
ENST00000551634.6:c.1997G>A	ENSP00000448373.2:p.Ser666Asn
ENST00000680362.1:c.1888G>A
ENST00000681323.1:c.793+2714G>A
ENST00000346562.6:c.1892G>A	ENSP00000319610.5:p.Ser631Asn
ENST00000356141.8:c.1988G>A	ENSP00000348460.4:p.Ser663Asn
ENST00000357798.9:c.1949G>A	ENSP00000350446.5:p.Ser650Asn
ENST00000548645.5:c.1898G>A	ENSP00000448916.1:p.Ser633Asn
ENST00000551492.5:c.2003G>A	ENSP00000450392.1:p.Ser668Asn
ENST00000551634.5:c.1910G>A	ENSP00000448373.1:p.Ser637Asn
NM_001164749.1:c.1988G>A	NP_001158221.1:p.Ser663Asn
NM_001165893.1:c.1898G>A	NP_001159365.1:p.Ser633Asn
NM_022123.2:c.1892G>A	NP_071406.1:p.Ser631Asn
NM_173159.2:c.1949G>A	NP_775182.1:p.Ser650Asn
XM_005267991.2:c.2009G>A	XP_005268048.1:p.Ser670Asn
XM_005267992.2:c.2003G>A	XP_005268049.1:p.Ser668Asn
XM_005267993.2:c.1949G>A	XP_005268050.1:p.Ser650Asn
XM_011537067.1:c.2039G>A	XP_011535369.1:p.Ser680Asn
XM_011537068.1:c.2030G>A	XP_011535370.1:p.Ser677Asn
XM_011537069.1:c.2000G>A	XP_011535371.1:p.Ser667Asn
XM_011537070.1:c.1943G>A	XP_011535372.1:p.Ser648Asn
XM_011537071.1:c.1910G>A	XP_011535373.1:p.Ser637Asn
XM_011537072.1:c.1889G>A	XP_011535374.1:p.Ser630Asn
XM_011537073.1:c.1682G>A	XP_011535375.1:p.Ser561Asn
XM_011537074.1:c.1682G>A	XP_011535376.1:p.Ser561Asn
XM_005267991.3:c.2096G>A	XP_005268048.2:p.Ser699Asn
XM_005267992.3:c.2090G>A	XP_005268049.2:p.Ser697Asn
XM_011537067.2:c.2039G>A	XP_011535369.1:p.Ser680Asn
XM_011537069.2:c.2087G>A	XP_011535371.2:p.Ser696Asn
XM_011537070.2:c.1943G>A	XP_011535372.1:p.Ser648Asn
XM_011537071.2:c.1997G>A	XP_011535373.2:p.Ser666Asn
XM_011537072.2:c.1889G>A	XP_011535374.1:p.Ser630Asn
XM_017021582.1:c.2147G>A	XP_016877071.1:p.Ser716Asn
XM_017021583.1:c.2138G>A	XP_016877072.1:p.Ser713Asn
XM_017021584.1:c.2057G>A	XP_016877073.1:p.Ser686Asn
XM_017021585.1:c.2006G>A	XP_016877074.1:p.Ser669Asn
XM_017021586.1:c.1682G>A	XP_016877075.1:p.Ser561Asn
XM_017021587.1:c.1682G>A	XP_016877076.1:p.Ser561Asn
XM_017021588.1:c.1682G>A	XP_016877077.1:p.Ser561Asn
NM_001164749.2:c.1988G>A MANE Select	NP_001158221.1:p.Ser663Asn
NM_001165893.2:c.1898G>A	NP_001159365.1:p.Ser633Asn
NM_022123.3:c.1892G>A	NP_071406.1:p.Ser631Asn
NM_173159.3:c.1949G>A	NP_775182.1:p.Ser650Asn
NM_001394988.1:c.1943G>A	NP_001381917.1:p.Ser648Asn
NM_001394989.1:c.1889G>A	NP_001381918.1:p.Ser630Asn