Canonical Allele Identifier: CA486093143

Gene: NPAS3

Linked Data

• gnomAD v4: 14-33800428-G-C
• MyVariant Identifiers: chr14:g.34269634G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800428G>C , CM000676.2:g.33800428G>C	GRCh38
NC_000014.8:g.34269634G>C , CM000676.1:g.34269634G>C	GRCh37
NC_000014.7:g.33339385G>C	NCBI36
NG_013036.1:g.866176G>C
NG_013036.2:g.866176G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.2121G>C MANE Select	ENSP00000348460.4:p.Leu707=
ENST00000551634.6:c.2130G>C	ENSP00000448373.2:p.Leu710=
ENST00000680362.1:c.2021G>C
ENST00000681323.1:c.793+2847G>C
ENST00000346562.6:c.2025G>C	ENSP00000319610.5:p.Leu675=
ENST00000356141.8:c.2121G>C	ENSP00000348460.4:p.Leu707=
ENST00000357798.9:c.2082G>C	ENSP00000350446.5:p.Leu694=
ENST00000548645.5:c.2031G>C	ENSP00000448916.1:p.Leu677=
ENST00000551492.5:c.2136G>C	ENSP00000450392.1:p.Leu712=
ENST00000551634.5:c.2043G>C	ENSP00000448373.1:p.Leu681=
NM_001164749.1:c.2121G>C	NP_001158221.1:p.Leu707=
NM_001165893.1:c.2031G>C	NP_001159365.1:p.Leu677=
NM_022123.2:c.2025G>C	NP_071406.1:p.Leu675=
NM_173159.2:c.2082G>C	NP_775182.1:p.Leu694=
XM_005267991.2:c.2142G>C	XP_005268048.1:p.Leu714=
XM_005267992.2:c.2136G>C	XP_005268049.1:p.Leu712=
XM_005267993.2:c.2082G>C	XP_005268050.1:p.Leu694=
XM_011537067.1:c.2172G>C	XP_011535369.1:p.Leu724=
XM_011537068.1:c.2163G>C	XP_011535370.1:p.Leu721=
XM_011537069.1:c.2133G>C	XP_011535371.1:p.Leu711=
XM_011537070.1:c.2076G>C	XP_011535372.1:p.Leu692=
XM_011537071.1:c.2043G>C	XP_011535373.1:p.Leu681=
XM_011537072.1:c.2022G>C	XP_011535374.1:p.Leu674=
XM_011537073.1:c.1815G>C	XP_011535375.1:p.Leu605=
XM_011537074.1:c.1815G>C	XP_011535376.1:p.Leu605=
XM_005267991.3:c.2229G>C	XP_005268048.2:p.Leu743=
XM_005267992.3:c.2223G>C	XP_005268049.2:p.Leu741=
XM_011537067.2:c.2172G>C	XP_011535369.1:p.Leu724=
XM_011537069.2:c.2220G>C	XP_011535371.2:p.Leu740=
XM_011537070.2:c.2076G>C	XP_011535372.1:p.Leu692=
XM_011537071.2:c.2130G>C	XP_011535373.2:p.Leu710=
XM_011537072.2:c.2022G>C	XP_011535374.1:p.Leu674=
XM_017021582.1:c.2280G>C	XP_016877071.1:p.Leu760=
XM_017021583.1:c.2271G>C	XP_016877072.1:p.Leu757=
XM_017021584.1:c.2190G>C	XP_016877073.1:p.Leu730=
XM_017021585.1:c.2139G>C	XP_016877074.1:p.Leu713=
XM_017021586.1:c.1815G>C	XP_016877075.1:p.Leu605=
XM_017021587.1:c.1815G>C	XP_016877076.1:p.Leu605=
XM_017021588.1:c.1815G>C	XP_016877077.1:p.Leu605=
NM_001164749.2:c.2121G>C MANE Select	NP_001158221.1:p.Leu707=
NM_001165893.2:c.2031G>C	NP_001159365.1:p.Leu677=
NM_022123.3:c.2025G>C	NP_071406.1:p.Leu675=
NM_173159.3:c.2082G>C	NP_775182.1:p.Leu694=
NM_001394988.1:c.2076G>C	NP_001381917.1:p.Leu692=
NM_001394989.1:c.2022G>C	NP_001381918.1:p.Leu674=