Canonical Allele Identifier: CA7150876

Gene: NPAS3

Linked Data

• dbSNP Id: rs759470482
• ExAC: 14:34269280 G / A
• gnomAD v2: 14-34269280-G-A
• gnomAD v3: 14-33800074-G-A
• gnomAD v4: 14-33800074-G-A
• MyVariant Identifiers: chr14:g.34269280G>A (hg19) ; chr14:g.33800074G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800074G>A , CM000676.2:g.33800074G>A	GRCh38
NC_000014.8:g.34269280G>A , CM000676.1:g.34269280G>A	GRCh37
NC_000014.7:g.33339031G>A	NCBI36
NG_013036.1:g.865822G>A
NG_013036.2:g.865822G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1767G>A MANE Select	ENSP00000348460.4:p.Ala589=
ENST00000551634.6:c.1776G>A	ENSP00000448373.2:p.Ala592=
ENST00000680362.1:c.1667G>A
ENST00000681323.1:c.793+2493G>A
ENST00000346562.6:c.1671G>A	ENSP00000319610.5:p.Ala557=
ENST00000356141.8:c.1767G>A	ENSP00000348460.4:p.Ala589=
ENST00000357798.9:c.1728G>A	ENSP00000350446.5:p.Ala576=
ENST00000548645.5:c.1677G>A	ENSP00000448916.1:p.Ala559=
ENST00000551492.5:c.1782G>A	ENSP00000450392.1:p.Ala594=
ENST00000551634.5:c.1689G>A	ENSP00000448373.1:p.Ala563=
NM_001164749.1:c.1767G>A	NP_001158221.1:p.Ala589=
NM_001165893.1:c.1677G>A	NP_001159365.1:p.Ala559=
NM_022123.2:c.1671G>A	NP_071406.1:p.Ala557=
NM_173159.2:c.1728G>A	NP_775182.1:p.Ala576=
XM_005267991.2:c.1788G>A	XP_005268048.1:p.Ala596=
XM_005267992.2:c.1782G>A	XP_005268049.1:p.Ala594=
XM_005267993.2:c.1728G>A	XP_005268050.1:p.Ala576=
XM_011537067.1:c.1818G>A	XP_011535369.1:p.Ala606=
XM_011537068.1:c.1809G>A	XP_011535370.1:p.Ala603=
XM_011537069.1:c.1779G>A	XP_011535371.1:p.Ala593=
XM_011537070.1:c.1722G>A	XP_011535372.1:p.Ala574=
XM_011537071.1:c.1689G>A	XP_011535373.1:p.Ala563=
XM_011537072.1:c.1668G>A	XP_011535374.1:p.Ala556=
XM_011537073.1:c.1461G>A	XP_011535375.1:p.Ala487=
XM_011537074.1:c.1461G>A	XP_011535376.1:p.Ala487=
XM_005267991.3:c.1875G>A	XP_005268048.2:p.Ala625=
XM_005267992.3:c.1869G>A	XP_005268049.2:p.Ala623=
XM_011537067.2:c.1818G>A	XP_011535369.1:p.Ala606=
XM_011537069.2:c.1866G>A	XP_011535371.2:p.Ala622=
XM_011537070.2:c.1722G>A	XP_011535372.1:p.Ala574=
XM_011537071.2:c.1776G>A	XP_011535373.2:p.Ala592=
XM_011537072.2:c.1668G>A	XP_011535374.1:p.Ala556=
XM_017021582.1:c.1926G>A	XP_016877071.1:p.Ala642=
XM_017021583.1:c.1917G>A	XP_016877072.1:p.Ala639=
XM_017021584.1:c.1836G>A	XP_016877073.1:p.Ala612=
XM_017021585.1:c.1785G>A	XP_016877074.1:p.Ala595=
XM_017021586.1:c.1461G>A	XP_016877075.1:p.Ala487=
XM_017021587.1:c.1461G>A	XP_016877076.1:p.Ala487=
XM_017021588.1:c.1461G>A	XP_016877077.1:p.Ala487=
NM_001164749.2:c.1767G>A MANE Select	NP_001158221.1:p.Ala589=
NM_001165893.2:c.1677G>A	NP_001159365.1:p.Ala559=
NM_022123.3:c.1671G>A	NP_071406.1:p.Ala557=
NM_173159.3:c.1728G>A	NP_775182.1:p.Ala576=
NM_001394988.1:c.1722G>A	NP_001381917.1:p.Ala574=
NM_001394989.1:c.1668G>A	NP_001381918.1:p.Ala556=