Canonical Allele Identifier: CA486093086

Gene: NPAS3

Linked Data

• gnomAD v4: 14-33800389-G-A
• MyVariant Identifiers: chr14:g.34269595G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800389G>A , CM000676.2:g.33800389G>A	GRCh38
NC_000014.8:g.34269595G>A , CM000676.1:g.34269595G>A	GRCh37
NC_000014.7:g.33339346G>A	NCBI36
NG_013036.1:g.866137G>A
NG_013036.2:g.866137G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.2082G>A MANE Select	ENSP00000348460.4:p.Pro694=
ENST00000551634.6:c.2091G>A	ENSP00000448373.2:p.Pro697=
ENST00000680362.1:c.1982G>A
ENST00000681323.1:c.793+2808G>A
ENST00000346562.6:c.1986G>A	ENSP00000319610.5:p.Pro662=
ENST00000356141.8:c.2082G>A	ENSP00000348460.4:p.Pro694=
ENST00000357798.9:c.2043G>A	ENSP00000350446.5:p.Pro681=
ENST00000548645.5:c.1992G>A	ENSP00000448916.1:p.Pro664=
ENST00000551492.5:c.2097G>A	ENSP00000450392.1:p.Pro699=
ENST00000551634.5:c.2004G>A	ENSP00000448373.1:p.Pro668=
NM_001164749.1:c.2082G>A	NP_001158221.1:p.Pro694=
NM_001165893.1:c.1992G>A	NP_001159365.1:p.Pro664=
NM_022123.2:c.1986G>A	NP_071406.1:p.Pro662=
NM_173159.2:c.2043G>A	NP_775182.1:p.Pro681=
XM_005267991.2:c.2103G>A	XP_005268048.1:p.Pro701=
XM_005267992.2:c.2097G>A	XP_005268049.1:p.Pro699=
XM_005267993.2:c.2043G>A	XP_005268050.1:p.Pro681=
XM_011537067.1:c.2133G>A	XP_011535369.1:p.Pro711=
XM_011537068.1:c.2124G>A	XP_011535370.1:p.Pro708=
XM_011537069.1:c.2094G>A	XP_011535371.1:p.Pro698=
XM_011537070.1:c.2037G>A	XP_011535372.1:p.Pro679=
XM_011537071.1:c.2004G>A	XP_011535373.1:p.Pro668=
XM_011537072.1:c.1983G>A	XP_011535374.1:p.Pro661=
XM_011537073.1:c.1776G>A	XP_011535375.1:p.Pro592=
XM_011537074.1:c.1776G>A	XP_011535376.1:p.Pro592=
XM_005267991.3:c.2190G>A	XP_005268048.2:p.Pro730=
XM_005267992.3:c.2184G>A	XP_005268049.2:p.Pro728=
XM_011537067.2:c.2133G>A	XP_011535369.1:p.Pro711=
XM_011537069.2:c.2181G>A	XP_011535371.2:p.Pro727=
XM_011537070.2:c.2037G>A	XP_011535372.1:p.Pro679=
XM_011537071.2:c.2091G>A	XP_011535373.2:p.Pro697=
XM_011537072.2:c.1983G>A	XP_011535374.1:p.Pro661=
XM_017021582.1:c.2241G>A	XP_016877071.1:p.Pro747=
XM_017021583.1:c.2232G>A	XP_016877072.1:p.Pro744=
XM_017021584.1:c.2151G>A	XP_016877073.1:p.Pro717=
XM_017021585.1:c.2100G>A	XP_016877074.1:p.Pro700=
XM_017021586.1:c.1776G>A	XP_016877075.1:p.Pro592=
XM_017021587.1:c.1776G>A	XP_016877076.1:p.Pro592=
XM_017021588.1:c.1776G>A	XP_016877077.1:p.Pro592=
NM_001164749.2:c.2082G>A MANE Select	NP_001158221.1:p.Pro694=
NM_001165893.2:c.1992G>A	NP_001159365.1:p.Pro664=
NM_022123.3:c.1986G>A	NP_071406.1:p.Pro662=
NM_173159.3:c.2043G>A	NP_775182.1:p.Pro681=
NM_001394988.1:c.2037G>A	NP_001381917.1:p.Pro679=
NM_001394989.1:c.1983G>A	NP_001381918.1:p.Pro661=