Canonical Allele Identifier: CA486093110

Gene: NPAS3

Linked Data

• gnomAD v4: 14-33800407-G-T
• MyVariant Identifiers: chr14:g.34269613G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800407G>T , CM000676.2:g.33800407G>T	GRCh38
NC_000014.8:g.34269613G>T , CM000676.1:g.34269613G>T	GRCh37
NC_000014.7:g.33339364G>T	NCBI36
NG_013036.1:g.866155G>T
NG_013036.2:g.866155G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.2100G>T MANE Select	ENSP00000348460.4:p.Gly700=
ENST00000551634.6:c.2109G>T	ENSP00000448373.2:p.Gly703=
ENST00000680362.1:c.2000G>T
ENST00000681323.1:c.793+2826G>T
ENST00000346562.6:c.2004G>T	ENSP00000319610.5:p.Gly668=
ENST00000356141.8:c.2100G>T	ENSP00000348460.4:p.Gly700=
ENST00000357798.9:c.2061G>T	ENSP00000350446.5:p.Gly687=
ENST00000548645.5:c.2010G>T	ENSP00000448916.1:p.Gly670=
ENST00000551492.5:c.2115G>T	ENSP00000450392.1:p.Gly705=
ENST00000551634.5:c.2022G>T	ENSP00000448373.1:p.Gly674=
NM_001164749.1:c.2100G>T	NP_001158221.1:p.Gly700=
NM_001165893.1:c.2010G>T	NP_001159365.1:p.Gly670=
NM_022123.2:c.2004G>T	NP_071406.1:p.Gly668=
NM_173159.2:c.2061G>T	NP_775182.1:p.Gly687=
XM_005267991.2:c.2121G>T	XP_005268048.1:p.Gly707=
XM_005267992.2:c.2115G>T	XP_005268049.1:p.Gly705=
XM_005267993.2:c.2061G>T	XP_005268050.1:p.Gly687=
XM_011537067.1:c.2151G>T	XP_011535369.1:p.Gly717=
XM_011537068.1:c.2142G>T	XP_011535370.1:p.Gly714=
XM_011537069.1:c.2112G>T	XP_011535371.1:p.Gly704=
XM_011537070.1:c.2055G>T	XP_011535372.1:p.Gly685=
XM_011537071.1:c.2022G>T	XP_011535373.1:p.Gly674=
XM_011537072.1:c.2001G>T	XP_011535374.1:p.Gly667=
XM_011537073.1:c.1794G>T	XP_011535375.1:p.Gly598=
XM_011537074.1:c.1794G>T	XP_011535376.1:p.Gly598=
XM_005267991.3:c.2208G>T	XP_005268048.2:p.Gly736=
XM_005267992.3:c.2202G>T	XP_005268049.2:p.Gly734=
XM_011537067.2:c.2151G>T	XP_011535369.1:p.Gly717=
XM_011537069.2:c.2199G>T	XP_011535371.2:p.Gly733=
XM_011537070.2:c.2055G>T	XP_011535372.1:p.Gly685=
XM_011537071.2:c.2109G>T	XP_011535373.2:p.Gly703=
XM_011537072.2:c.2001G>T	XP_011535374.1:p.Gly667=
XM_017021582.1:c.2259G>T	XP_016877071.1:p.Gly753=
XM_017021583.1:c.2250G>T	XP_016877072.1:p.Gly750=
XM_017021584.1:c.2169G>T	XP_016877073.1:p.Gly723=
XM_017021585.1:c.2118G>T	XP_016877074.1:p.Gly706=
XM_017021586.1:c.1794G>T	XP_016877075.1:p.Gly598=
XM_017021587.1:c.1794G>T	XP_016877076.1:p.Gly598=
XM_017021588.1:c.1794G>T	XP_016877077.1:p.Gly598=
NM_001164749.2:c.2100G>T MANE Select	NP_001158221.1:p.Gly700=
NM_001165893.2:c.2010G>T	NP_001159365.1:p.Gly670=
NM_022123.3:c.2004G>T	NP_071406.1:p.Gly668=
NM_173159.3:c.2061G>T	NP_775182.1:p.Gly687=
NM_001394988.1:c.2055G>T	NP_001381917.1:p.Gly685=
NM_001394989.1:c.2001G>T	NP_001381918.1:p.Gly667=