Canonical Allele Identifier: CA389412544

Gene: NPAS3

Linked Data

• dbSNP Id: rs2063647436
• gnomAD v4: 14-33800115-G-A
• MyVariant Identifiers: chr14:g.34269321G>A (hg19) ; chr14:g.33800115G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800115G>A , CM000676.2:g.33800115G>A	GRCh38
NC_000014.8:g.34269321G>A , CM000676.1:g.34269321G>A	GRCh37
NC_000014.7:g.33339072G>A	NCBI36
NG_013036.1:g.865863G>A
NG_013036.2:g.865863G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1808G>A MANE Select	ENSP00000348460.4:p.Arg603Lys
ENST00000551634.6:c.1817G>A	ENSP00000448373.2:p.Arg606Lys
ENST00000680362.1:c.1708G>A
ENST00000681323.1:c.793+2534G>A
ENST00000346562.6:c.1712G>A	ENSP00000319610.5:p.Arg571Lys
ENST00000356141.8:c.1808G>A	ENSP00000348460.4:p.Arg603Lys
ENST00000357798.9:c.1769G>A	ENSP00000350446.5:p.Arg590Lys
ENST00000548645.5:c.1718G>A	ENSP00000448916.1:p.Arg573Lys
ENST00000551492.5:c.1823G>A	ENSP00000450392.1:p.Arg608Lys
ENST00000551634.5:c.1730G>A	ENSP00000448373.1:p.Arg577Lys
NM_001164749.1:c.1808G>A	NP_001158221.1:p.Arg603Lys
NM_001165893.1:c.1718G>A	NP_001159365.1:p.Arg573Lys
NM_022123.2:c.1712G>A	NP_071406.1:p.Arg571Lys
NM_173159.2:c.1769G>A	NP_775182.1:p.Arg590Lys
XM_005267991.2:c.1829G>A	XP_005268048.1:p.Arg610Lys
XM_005267992.2:c.1823G>A	XP_005268049.1:p.Arg608Lys
XM_005267993.2:c.1769G>A	XP_005268050.1:p.Arg590Lys
XM_011537067.1:c.1859G>A	XP_011535369.1:p.Arg620Lys
XM_011537068.1:c.1850G>A	XP_011535370.1:p.Arg617Lys
XM_011537069.1:c.1820G>A	XP_011535371.1:p.Arg607Lys
XM_011537070.1:c.1763G>A	XP_011535372.1:p.Arg588Lys
XM_011537071.1:c.1730G>A	XP_011535373.1:p.Arg577Lys
XM_011537072.1:c.1709G>A	XP_011535374.1:p.Arg570Lys
XM_011537073.1:c.1502G>A	XP_011535375.1:p.Arg501Lys
XM_011537074.1:c.1502G>A	XP_011535376.1:p.Arg501Lys
XM_005267991.3:c.1916G>A	XP_005268048.2:p.Arg639Lys
XM_005267992.3:c.1910G>A	XP_005268049.2:p.Arg637Lys
XM_011537067.2:c.1859G>A	XP_011535369.1:p.Arg620Lys
XM_011537069.2:c.1907G>A	XP_011535371.2:p.Arg636Lys
XM_011537070.2:c.1763G>A	XP_011535372.1:p.Arg588Lys
XM_011537071.2:c.1817G>A	XP_011535373.2:p.Arg606Lys
XM_011537072.2:c.1709G>A	XP_011535374.1:p.Arg570Lys
XM_017021582.1:c.1967G>A	XP_016877071.1:p.Arg656Lys
XM_017021583.1:c.1958G>A	XP_016877072.1:p.Arg653Lys
XM_017021584.1:c.1877G>A	XP_016877073.1:p.Arg626Lys
XM_017021585.1:c.1826G>A	XP_016877074.1:p.Arg609Lys
XM_017021586.1:c.1502G>A	XP_016877075.1:p.Arg501Lys
XM_017021587.1:c.1502G>A	XP_016877076.1:p.Arg501Lys
XM_017021588.1:c.1502G>A	XP_016877077.1:p.Arg501Lys
NM_001164749.2:c.1808G>A MANE Select	NP_001158221.1:p.Arg603Lys
NM_001165893.2:c.1718G>A	NP_001159365.1:p.Arg573Lys
NM_022123.3:c.1712G>A	NP_071406.1:p.Arg571Lys
NM_173159.3:c.1769G>A	NP_775182.1:p.Arg590Lys
NM_001394988.1:c.1763G>A	NP_001381917.1:p.Arg588Lys
NM_001394989.1:c.1709G>A	NP_001381918.1:p.Arg570Lys