Canonical Allele Identifier: CA389412444

Gene: NPAS3

Linked Data

• gnomAD v4: 14-33800100-A-G
• MyVariant Identifiers: chr14:g.34269306A>G (hg19) ; chr14:g.33800100A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800100A>G , CM000676.2:g.33800100A>G	GRCh38
NC_000014.8:g.34269306A>G , CM000676.1:g.34269306A>G	GRCh37
NC_000014.7:g.33339057A>G	NCBI36
NG_013036.1:g.865848A>G
NG_013036.2:g.865848A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1793A>G MANE Select	ENSP00000348460.4:p.Gln598Arg
ENST00000551634.6:c.1802A>G	ENSP00000448373.2:p.Gln601Arg
ENST00000680362.1:c.1693A>G
ENST00000681323.1:c.793+2519A>G
ENST00000346562.6:c.1697A>G	ENSP00000319610.5:p.Gln566Arg
ENST00000356141.8:c.1793A>G	ENSP00000348460.4:p.Gln598Arg
ENST00000357798.9:c.1754A>G	ENSP00000350446.5:p.Gln585Arg
ENST00000548645.5:c.1703A>G	ENSP00000448916.1:p.Gln568Arg
ENST00000551492.5:c.1808A>G	ENSP00000450392.1:p.Gln603Arg
ENST00000551634.5:c.1715A>G	ENSP00000448373.1:p.Gln572Arg
NM_001164749.1:c.1793A>G	NP_001158221.1:p.Gln598Arg
NM_001165893.1:c.1703A>G	NP_001159365.1:p.Gln568Arg
NM_022123.2:c.1697A>G	NP_071406.1:p.Gln566Arg
NM_173159.2:c.1754A>G	NP_775182.1:p.Gln585Arg
XM_005267991.2:c.1814A>G	XP_005268048.1:p.Gln605Arg
XM_005267992.2:c.1808A>G	XP_005268049.1:p.Gln603Arg
XM_005267993.2:c.1754A>G	XP_005268050.1:p.Gln585Arg
XM_011537067.1:c.1844A>G	XP_011535369.1:p.Gln615Arg
XM_011537068.1:c.1835A>G	XP_011535370.1:p.Gln612Arg
XM_011537069.1:c.1805A>G	XP_011535371.1:p.Gln602Arg
XM_011537070.1:c.1748A>G	XP_011535372.1:p.Gln583Arg
XM_011537071.1:c.1715A>G	XP_011535373.1:p.Gln572Arg
XM_011537072.1:c.1694A>G	XP_011535374.1:p.Gln565Arg
XM_011537073.1:c.1487A>G	XP_011535375.1:p.Gln496Arg
XM_011537074.1:c.1487A>G	XP_011535376.1:p.Gln496Arg
XM_005267991.3:c.1901A>G	XP_005268048.2:p.Gln634Arg
XM_005267992.3:c.1895A>G	XP_005268049.2:p.Gln632Arg
XM_011537067.2:c.1844A>G	XP_011535369.1:p.Gln615Arg
XM_011537069.2:c.1892A>G	XP_011535371.2:p.Gln631Arg
XM_011537070.2:c.1748A>G	XP_011535372.1:p.Gln583Arg
XM_011537071.2:c.1802A>G	XP_011535373.2:p.Gln601Arg
XM_011537072.2:c.1694A>G	XP_011535374.1:p.Gln565Arg
XM_017021582.1:c.1952A>G	XP_016877071.1:p.Gln651Arg
XM_017021583.1:c.1943A>G	XP_016877072.1:p.Gln648Arg
XM_017021584.1:c.1862A>G	XP_016877073.1:p.Gln621Arg
XM_017021585.1:c.1811A>G	XP_016877074.1:p.Gln604Arg
XM_017021586.1:c.1487A>G	XP_016877075.1:p.Gln496Arg
XM_017021587.1:c.1487A>G	XP_016877076.1:p.Gln496Arg
XM_017021588.1:c.1487A>G	XP_016877077.1:p.Gln496Arg
NM_001164749.2:c.1793A>G MANE Select	NP_001158221.1:p.Gln598Arg
NM_001165893.2:c.1703A>G	NP_001159365.1:p.Gln568Arg
NM_022123.3:c.1697A>G	NP_071406.1:p.Gln566Arg
NM_173159.3:c.1754A>G	NP_775182.1:p.Gln585Arg
NM_001394988.1:c.1748A>G	NP_001381917.1:p.Gln583Arg
NM_001394989.1:c.1694A>G	NP_001381918.1:p.Gln565Arg