Canonical Allele Identifier: CA389412987

Gene: NPAS3

Linked Data

• dbSNP Id: rs2063653043
• gnomAD v4: 14-33800196-T-G
• MyVariant Identifiers: chr14:g.34269402T>G (hg19) ; chr14:g.33800196T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800196T>G , CM000676.2:g.33800196T>G	GRCh38
NC_000014.8:g.34269402T>G , CM000676.1:g.34269402T>G	GRCh37
NC_000014.7:g.33339153T>G	NCBI36
NG_013036.1:g.865944T>G
NG_013036.2:g.865944T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1889T>G MANE Select	ENSP00000348460.4:p.Leu630Arg
ENST00000551634.6:c.1898T>G	ENSP00000448373.2:p.Leu633Arg
ENST00000680362.1:c.1789T>G
ENST00000681323.1:c.793+2615T>G
ENST00000346562.6:c.1793T>G	ENSP00000319610.5:p.Leu598Arg
ENST00000356141.8:c.1889T>G	ENSP00000348460.4:p.Leu630Arg
ENST00000357798.9:c.1850T>G	ENSP00000350446.5:p.Leu617Arg
ENST00000548645.5:c.1799T>G	ENSP00000448916.1:p.Leu600Arg
ENST00000551492.5:c.1904T>G	ENSP00000450392.1:p.Leu635Arg
ENST00000551634.5:c.1811T>G	ENSP00000448373.1:p.Leu604Arg
NM_001164749.1:c.1889T>G	NP_001158221.1:p.Leu630Arg
NM_001165893.1:c.1799T>G	NP_001159365.1:p.Leu600Arg
NM_022123.2:c.1793T>G	NP_071406.1:p.Leu598Arg
NM_173159.2:c.1850T>G	NP_775182.1:p.Leu617Arg
XM_005267991.2:c.1910T>G	XP_005268048.1:p.Leu637Arg
XM_005267992.2:c.1904T>G	XP_005268049.1:p.Leu635Arg
XM_005267993.2:c.1850T>G	XP_005268050.1:p.Leu617Arg
XM_011537067.1:c.1940T>G	XP_011535369.1:p.Leu647Arg
XM_011537068.1:c.1931T>G	XP_011535370.1:p.Leu644Arg
XM_011537069.1:c.1901T>G	XP_011535371.1:p.Leu634Arg
XM_011537070.1:c.1844T>G	XP_011535372.1:p.Leu615Arg
XM_011537071.1:c.1811T>G	XP_011535373.1:p.Leu604Arg
XM_011537072.1:c.1790T>G	XP_011535374.1:p.Leu597Arg
XM_011537073.1:c.1583T>G	XP_011535375.1:p.Leu528Arg
XM_011537074.1:c.1583T>G	XP_011535376.1:p.Leu528Arg
XM_005267991.3:c.1997T>G	XP_005268048.2:p.Leu666Arg
XM_005267992.3:c.1991T>G	XP_005268049.2:p.Leu664Arg
XM_011537067.2:c.1940T>G	XP_011535369.1:p.Leu647Arg
XM_011537069.2:c.1988T>G	XP_011535371.2:p.Leu663Arg
XM_011537070.2:c.1844T>G	XP_011535372.1:p.Leu615Arg
XM_011537071.2:c.1898T>G	XP_011535373.2:p.Leu633Arg
XM_011537072.2:c.1790T>G	XP_011535374.1:p.Leu597Arg
XM_017021582.1:c.2048T>G	XP_016877071.1:p.Leu683Arg
XM_017021583.1:c.2039T>G	XP_016877072.1:p.Leu680Arg
XM_017021584.1:c.1958T>G	XP_016877073.1:p.Leu653Arg
XM_017021585.1:c.1907T>G	XP_016877074.1:p.Leu636Arg
XM_017021586.1:c.1583T>G	XP_016877075.1:p.Leu528Arg
XM_017021587.1:c.1583T>G	XP_016877076.1:p.Leu528Arg
XM_017021588.1:c.1583T>G	XP_016877077.1:p.Leu528Arg
NM_001164749.2:c.1889T>G MANE Select	NP_001158221.1:p.Leu630Arg
NM_001165893.2:c.1799T>G	NP_001159365.1:p.Leu600Arg
NM_022123.3:c.1793T>G	NP_071406.1:p.Leu598Arg
NM_173159.3:c.1850T>G	NP_775182.1:p.Leu617Arg
NM_001394988.1:c.1844T>G	NP_001381917.1:p.Leu615Arg
NM_001394989.1:c.1790T>G	NP_001381918.1:p.Leu597Arg