Canonical Allele Identifier: CA486092971

Gene: NPAS3

Linked Data

• dbSNP Id: rs2063656209
• gnomAD v4: 14-33800254-G-A
• MyVariant Identifiers: chr14:g.34269460G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800254G>A , CM000676.2:g.33800254G>A	GRCh38
NC_000014.8:g.34269460G>A , CM000676.1:g.34269460G>A	GRCh37
NC_000014.7:g.33339211G>A	NCBI36
NG_013036.1:g.866002G>A
NG_013036.2:g.866002G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1947G>A MANE Select	ENSP00000348460.4:p.Lys649=
ENST00000551634.6:c.1956G>A	ENSP00000448373.2:p.Lys652=
ENST00000680362.1:c.1847G>A
ENST00000681323.1:c.793+2673G>A
ENST00000346562.6:c.1851G>A	ENSP00000319610.5:p.Lys617=
ENST00000356141.8:c.1947G>A	ENSP00000348460.4:p.Lys649=
ENST00000357798.9:c.1908G>A	ENSP00000350446.5:p.Lys636=
ENST00000548645.5:c.1857G>A	ENSP00000448916.1:p.Lys619=
ENST00000551492.5:c.1962G>A	ENSP00000450392.1:p.Lys654=
ENST00000551634.5:c.1869G>A	ENSP00000448373.1:p.Lys623=
NM_001164749.1:c.1947G>A	NP_001158221.1:p.Lys649=
NM_001165893.1:c.1857G>A	NP_001159365.1:p.Lys619=
NM_022123.2:c.1851G>A	NP_071406.1:p.Lys617=
NM_173159.2:c.1908G>A	NP_775182.1:p.Lys636=
XM_005267991.2:c.1968G>A	XP_005268048.1:p.Lys656=
XM_005267992.2:c.1962G>A	XP_005268049.1:p.Lys654=
XM_005267993.2:c.1908G>A	XP_005268050.1:p.Lys636=
XM_011537067.1:c.1998G>A	XP_011535369.1:p.Lys666=
XM_011537068.1:c.1989G>A	XP_011535370.1:p.Lys663=
XM_011537069.1:c.1959G>A	XP_011535371.1:p.Lys653=
XM_011537070.1:c.1902G>A	XP_011535372.1:p.Lys634=
XM_011537071.1:c.1869G>A	XP_011535373.1:p.Lys623=
XM_011537072.1:c.1848G>A	XP_011535374.1:p.Lys616=
XM_011537073.1:c.1641G>A	XP_011535375.1:p.Lys547=
XM_011537074.1:c.1641G>A	XP_011535376.1:p.Lys547=
XM_005267991.3:c.2055G>A	XP_005268048.2:p.Lys685=
XM_005267992.3:c.2049G>A	XP_005268049.2:p.Lys683=
XM_011537067.2:c.1998G>A	XP_011535369.1:p.Lys666=
XM_011537069.2:c.2046G>A	XP_011535371.2:p.Lys682=
XM_011537070.2:c.1902G>A	XP_011535372.1:p.Lys634=
XM_011537071.2:c.1956G>A	XP_011535373.2:p.Lys652=
XM_011537072.2:c.1848G>A	XP_011535374.1:p.Lys616=
XM_017021582.1:c.2106G>A	XP_016877071.1:p.Lys702=
XM_017021583.1:c.2097G>A	XP_016877072.1:p.Lys699=
XM_017021584.1:c.2016G>A	XP_016877073.1:p.Lys672=
XM_017021585.1:c.1965G>A	XP_016877074.1:p.Lys655=
XM_017021586.1:c.1641G>A	XP_016877075.1:p.Lys547=
XM_017021587.1:c.1641G>A	XP_016877076.1:p.Lys547=
XM_017021588.1:c.1641G>A	XP_016877077.1:p.Lys547=
NM_001164749.2:c.1947G>A MANE Select	NP_001158221.1:p.Lys649=
NM_001165893.2:c.1857G>A	NP_001159365.1:p.Lys619=
NM_022123.3:c.1851G>A	NP_071406.1:p.Lys617=
NM_173159.3:c.1908G>A	NP_775182.1:p.Lys636=
NM_001394988.1:c.1902G>A	NP_001381917.1:p.Lys634=
NM_001394989.1:c.1848G>A	NP_001381918.1:p.Lys616=