Canonical Allele Identifier: CA258719237

Gene: NPAS3

Linked Data

• dbSNP Id: rs927452753
• gnomAD v4: 14-33800572-G-A
• MyVariant Identifiers: chr14:g.34269778G>A (hg19) ; chr14:g.33800572G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800572G>A , CM000676.2:g.33800572G>A	GRCh38
NC_000014.8:g.34269778G>A , CM000676.1:g.34269778G>A	GRCh37
NC_000014.7:g.33339529G>A	NCBI36
NG_013036.1:g.866320G>A
NG_013036.2:g.866320G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.2265G>A MANE Select	ENSP00000348460.4:p.Pro755=
ENST00000551634.6:c.2274G>A	ENSP00000448373.2:p.Pro758=
ENST00000680362.1:c.2165G>A
ENST00000681323.1:c.793+2991G>A
ENST00000346562.6:c.2169G>A	ENSP00000319610.5:p.Pro723=
ENST00000356141.8:c.2265G>A	ENSP00000348460.4:p.Pro755=
ENST00000357798.9:c.2226G>A	ENSP00000350446.5:p.Pro742=
ENST00000548645.5:c.2175G>A	ENSP00000448916.1:p.Pro725=
ENST00000551492.5:c.2280G>A	ENSP00000450392.1:p.Pro760=
ENST00000551634.5:c.2187G>A	ENSP00000448373.1:p.Pro729=
NM_001164749.1:c.2265G>A	NP_001158221.1:p.Pro755=
NM_001165893.1:c.2175G>A	NP_001159365.1:p.Pro725=
NM_022123.2:c.2169G>A	NP_071406.1:p.Pro723=
NM_173159.2:c.2226G>A	NP_775182.1:p.Pro742=
XM_005267991.2:c.2286G>A	XP_005268048.1:p.Pro762=
XM_005267992.2:c.2280G>A	XP_005268049.1:p.Pro760=
XM_005267993.2:c.2226G>A	XP_005268050.1:p.Pro742=
XM_011537067.1:c.2316G>A	XP_011535369.1:p.Pro772=
XM_011537068.1:c.2307G>A	XP_011535370.1:p.Pro769=
XM_011537069.1:c.2277G>A	XP_011535371.1:p.Pro759=
XM_011537070.1:c.2220G>A	XP_011535372.1:p.Pro740=
XM_011537071.1:c.2187G>A	XP_011535373.1:p.Pro729=
XM_011537072.1:c.2166G>A	XP_011535374.1:p.Pro722=
XM_011537073.1:c.1959G>A	XP_011535375.1:p.Pro653=
XM_011537074.1:c.1959G>A	XP_011535376.1:p.Pro653=
XM_005267991.3:c.2373G>A	XP_005268048.2:p.Pro791=
XM_005267992.3:c.2367G>A	XP_005268049.2:p.Pro789=
XM_011537067.2:c.2316G>A	XP_011535369.1:p.Pro772=
XM_011537069.2:c.2364G>A	XP_011535371.2:p.Pro788=
XM_011537070.2:c.2220G>A	XP_011535372.1:p.Pro740=
XM_011537071.2:c.2274G>A	XP_011535373.2:p.Pro758=
XM_011537072.2:c.2166G>A	XP_011535374.1:p.Pro722=
XM_017021582.1:c.2424G>A	XP_016877071.1:p.Pro808=
XM_017021583.1:c.2415G>A	XP_016877072.1:p.Pro805=
XM_017021584.1:c.2334G>A	XP_016877073.1:p.Pro778=
XM_017021585.1:c.2283G>A	XP_016877074.1:p.Pro761=
XM_017021586.1:c.1959G>A	XP_016877075.1:p.Pro653=
XM_017021587.1:c.1959G>A	XP_016877076.1:p.Pro653=
XM_017021588.1:c.1959G>A	XP_016877077.1:p.Pro653=
NM_001164749.2:c.2265G>A MANE Select	NP_001158221.1:p.Pro755=
NM_001165893.2:c.2175G>A	NP_001159365.1:p.Pro725=
NM_022123.3:c.2169G>A	NP_071406.1:p.Pro723=
NM_173159.3:c.2226G>A	NP_775182.1:p.Pro742=
NM_001394988.1:c.2220G>A	NP_001381917.1:p.Pro740=
NM_001394989.1:c.2166G>A	NP_001381918.1:p.Pro722=