Canonical Allele Identifier: CA389413509

Gene: NPAS3

Linked Data

• dbSNP Id: rs2063659000
• gnomAD v4: 14-33800318-C-T
• MyVariant Identifiers: chr14:g.34269524C>T (hg19) ; chr14:g.33800318C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800318C>T , CM000676.2:g.33800318C>T	GRCh38
NC_000014.8:g.34269524C>T , CM000676.1:g.34269524C>T	GRCh37
NC_000014.7:g.33339275C>T	NCBI36
NG_013036.1:g.866066C>T
NG_013036.2:g.866066C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.2011C>T MANE Select	ENSP00000348460.4:p.Arg671Trp
ENST00000551634.6:c.2020C>T	ENSP00000448373.2:p.Arg674Trp
ENST00000680362.1:c.1911C>T
ENST00000681323.1:c.793+2737C>T
ENST00000346562.6:c.1915C>T	ENSP00000319610.5:p.Arg639Trp
ENST00000356141.8:c.2011C>T	ENSP00000348460.4:p.Arg671Trp
ENST00000357798.9:c.1972C>T	ENSP00000350446.5:p.Arg658Trp
ENST00000548645.5:c.1921C>T	ENSP00000448916.1:p.Arg641Trp
ENST00000551492.5:c.2026C>T	ENSP00000450392.1:p.Arg676Trp
ENST00000551634.5:c.1933C>T	ENSP00000448373.1:p.Arg645Trp
NM_001164749.1:c.2011C>T	NP_001158221.1:p.Arg671Trp
NM_001165893.1:c.1921C>T	NP_001159365.1:p.Arg641Trp
NM_022123.2:c.1915C>T	NP_071406.1:p.Arg639Trp
NM_173159.2:c.1972C>T	NP_775182.1:p.Arg658Trp
XM_005267991.2:c.2032C>T	XP_005268048.1:p.Arg678Trp
XM_005267992.2:c.2026C>T	XP_005268049.1:p.Arg676Trp
XM_005267993.2:c.1972C>T	XP_005268050.1:p.Arg658Trp
XM_011537067.1:c.2062C>T	XP_011535369.1:p.Arg688Trp
XM_011537068.1:c.2053C>T	XP_011535370.1:p.Arg685Trp
XM_011537069.1:c.2023C>T	XP_011535371.1:p.Arg675Trp
XM_011537070.1:c.1966C>T	XP_011535372.1:p.Arg656Trp
XM_011537071.1:c.1933C>T	XP_011535373.1:p.Arg645Trp
XM_011537072.1:c.1912C>T	XP_011535374.1:p.Arg638Trp
XM_011537073.1:c.1705C>T	XP_011535375.1:p.Arg569Trp
XM_011537074.1:c.1705C>T	XP_011535376.1:p.Arg569Trp
XM_005267991.3:c.2119C>T	XP_005268048.2:p.Arg707Trp
XM_005267992.3:c.2113C>T	XP_005268049.2:p.Arg705Trp
XM_011537067.2:c.2062C>T	XP_011535369.1:p.Arg688Trp
XM_011537069.2:c.2110C>T	XP_011535371.2:p.Arg704Trp
XM_011537070.2:c.1966C>T	XP_011535372.1:p.Arg656Trp
XM_011537071.2:c.2020C>T	XP_011535373.2:p.Arg674Trp
XM_011537072.2:c.1912C>T	XP_011535374.1:p.Arg638Trp
XM_017021582.1:c.2170C>T	XP_016877071.1:p.Arg724Trp
XM_017021583.1:c.2161C>T	XP_016877072.1:p.Arg721Trp
XM_017021584.1:c.2080C>T	XP_016877073.1:p.Arg694Trp
XM_017021585.1:c.2029C>T	XP_016877074.1:p.Arg677Trp
XM_017021586.1:c.1705C>T	XP_016877075.1:p.Arg569Trp
XM_017021587.1:c.1705C>T	XP_016877076.1:p.Arg569Trp
XM_017021588.1:c.1705C>T	XP_016877077.1:p.Arg569Trp
NM_001164749.2:c.2011C>T MANE Select	NP_001158221.1:p.Arg671Trp
NM_001165893.2:c.1921C>T	NP_001159365.1:p.Arg641Trp
NM_022123.3:c.1915C>T	NP_071406.1:p.Arg639Trp
NM_173159.3:c.1972C>T	NP_775182.1:p.Arg658Trp
NM_001394988.1:c.1966C>T	NP_001381917.1:p.Arg656Trp
NM_001394989.1:c.1912C>T	NP_001381918.1:p.Arg638Trp