Canonical Allele Identifier: CA389412644

Gene: NPAS3

Linked Data

• gnomAD v4: 14-33800130-A-G
• MyVariant Identifiers: chr14:g.34269336A>G (hg19) ; chr14:g.33800130A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800130A>G , CM000676.2:g.33800130A>G	GRCh38
NC_000014.8:g.34269336A>G , CM000676.1:g.34269336A>G	GRCh37
NC_000014.7:g.33339087A>G	NCBI36
NG_013036.1:g.865878A>G
NG_013036.2:g.865878A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1823A>G MANE Select	ENSP00000348460.4:p.Lys608Arg
ENST00000551634.6:c.1832A>G	ENSP00000448373.2:p.Lys611Arg
ENST00000680362.1:c.1723A>G
ENST00000681323.1:c.793+2549A>G
ENST00000346562.6:c.1727A>G	ENSP00000319610.5:p.Lys576Arg
ENST00000356141.8:c.1823A>G	ENSP00000348460.4:p.Lys608Arg
ENST00000357798.9:c.1784A>G	ENSP00000350446.5:p.Lys595Arg
ENST00000548645.5:c.1733A>G	ENSP00000448916.1:p.Lys578Arg
ENST00000551492.5:c.1838A>G	ENSP00000450392.1:p.Lys613Arg
ENST00000551634.5:c.1745A>G	ENSP00000448373.1:p.Lys582Arg
NM_001164749.1:c.1823A>G	NP_001158221.1:p.Lys608Arg
NM_001165893.1:c.1733A>G	NP_001159365.1:p.Lys578Arg
NM_022123.2:c.1727A>G	NP_071406.1:p.Lys576Arg
NM_173159.2:c.1784A>G	NP_775182.1:p.Lys595Arg
XM_005267991.2:c.1844A>G	XP_005268048.1:p.Lys615Arg
XM_005267992.2:c.1838A>G	XP_005268049.1:p.Lys613Arg
XM_005267993.2:c.1784A>G	XP_005268050.1:p.Lys595Arg
XM_011537067.1:c.1874A>G	XP_011535369.1:p.Lys625Arg
XM_011537068.1:c.1865A>G	XP_011535370.1:p.Lys622Arg
XM_011537069.1:c.1835A>G	XP_011535371.1:p.Lys612Arg
XM_011537070.1:c.1778A>G	XP_011535372.1:p.Lys593Arg
XM_011537071.1:c.1745A>G	XP_011535373.1:p.Lys582Arg
XM_011537072.1:c.1724A>G	XP_011535374.1:p.Lys575Arg
XM_011537073.1:c.1517A>G	XP_011535375.1:p.Lys506Arg
XM_011537074.1:c.1517A>G	XP_011535376.1:p.Lys506Arg
XM_005267991.3:c.1931A>G	XP_005268048.2:p.Lys644Arg
XM_005267992.3:c.1925A>G	XP_005268049.2:p.Lys642Arg
XM_011537067.2:c.1874A>G	XP_011535369.1:p.Lys625Arg
XM_011537069.2:c.1922A>G	XP_011535371.2:p.Lys641Arg
XM_011537070.2:c.1778A>G	XP_011535372.1:p.Lys593Arg
XM_011537071.2:c.1832A>G	XP_011535373.2:p.Lys611Arg
XM_011537072.2:c.1724A>G	XP_011535374.1:p.Lys575Arg
XM_017021582.1:c.1982A>G	XP_016877071.1:p.Lys661Arg
XM_017021583.1:c.1973A>G	XP_016877072.1:p.Lys658Arg
XM_017021584.1:c.1892A>G	XP_016877073.1:p.Lys631Arg
XM_017021585.1:c.1841A>G	XP_016877074.1:p.Lys614Arg
XM_017021586.1:c.1517A>G	XP_016877075.1:p.Lys506Arg
XM_017021587.1:c.1517A>G	XP_016877076.1:p.Lys506Arg
XM_017021588.1:c.1517A>G	XP_016877077.1:p.Lys506Arg
NM_001164749.2:c.1823A>G MANE Select	NP_001158221.1:p.Lys608Arg
NM_001165893.2:c.1733A>G	NP_001159365.1:p.Lys578Arg
NM_022123.3:c.1727A>G	NP_071406.1:p.Lys576Arg
NM_173159.3:c.1784A>G	NP_775182.1:p.Lys595Arg
NM_001394988.1:c.1778A>G	NP_001381917.1:p.Lys593Arg
NM_001394989.1:c.1724A>G	NP_001381918.1:p.Lys575Arg