Canonical Allele Identifier: CA389412284

Gene: NPAS3

Linked Data

• dbSNP Id: rs770665316
• gnomAD v2: 14-34269279-C-T
• gnomAD v4: 14-33800073-C-T
• MyVariant Identifiers: chr14:g.34269279C>T (hg19) ; chr14:g.33800073C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800073C>T , CM000676.2:g.33800073C>T	GRCh38
NC_000014.8:g.34269279C>T , CM000676.1:g.34269279C>T	GRCh37
NC_000014.7:g.33339030C>T	NCBI36
NG_013036.1:g.865821C>T
NG_013036.2:g.865821C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1766C>T MANE Select	ENSP00000348460.4:p.Ala589Val
ENST00000551634.6:c.1775C>T	ENSP00000448373.2:p.Ala592Val
ENST00000680362.1:c.1666C>T
ENST00000681323.1:c.793+2492C>T
ENST00000346562.6:c.1670C>T	ENSP00000319610.5:p.Ala557Val
ENST00000356141.8:c.1766C>T	ENSP00000348460.4:p.Ala589Val
ENST00000357798.9:c.1727C>T	ENSP00000350446.5:p.Ala576Val
ENST00000548645.5:c.1676C>T	ENSP00000448916.1:p.Ala559Val
ENST00000551492.5:c.1781C>T	ENSP00000450392.1:p.Ala594Val
ENST00000551634.5:c.1688C>T	ENSP00000448373.1:p.Ala563Val
NM_001164749.1:c.1766C>T	NP_001158221.1:p.Ala589Val
NM_001165893.1:c.1676C>T	NP_001159365.1:p.Ala559Val
NM_022123.2:c.1670C>T	NP_071406.1:p.Ala557Val
NM_173159.2:c.1727C>T	NP_775182.1:p.Ala576Val
XM_005267991.2:c.1787C>T	XP_005268048.1:p.Ala596Val
XM_005267992.2:c.1781C>T	XP_005268049.1:p.Ala594Val
XM_005267993.2:c.1727C>T	XP_005268050.1:p.Ala576Val
XM_011537067.1:c.1817C>T	XP_011535369.1:p.Ala606Val
XM_011537068.1:c.1808C>T	XP_011535370.1:p.Ala603Val
XM_011537069.1:c.1778C>T	XP_011535371.1:p.Ala593Val
XM_011537070.1:c.1721C>T	XP_011535372.1:p.Ala574Val
XM_011537071.1:c.1688C>T	XP_011535373.1:p.Ala563Val
XM_011537072.1:c.1667C>T	XP_011535374.1:p.Ala556Val
XM_011537073.1:c.1460C>T	XP_011535375.1:p.Ala487Val
XM_011537074.1:c.1460C>T	XP_011535376.1:p.Ala487Val
XM_005267991.3:c.1874C>T	XP_005268048.2:p.Ala625Val
XM_005267992.3:c.1868C>T	XP_005268049.2:p.Ala623Val
XM_011537067.2:c.1817C>T	XP_011535369.1:p.Ala606Val
XM_011537069.2:c.1865C>T	XP_011535371.2:p.Ala622Val
XM_011537070.2:c.1721C>T	XP_011535372.1:p.Ala574Val
XM_011537071.2:c.1775C>T	XP_011535373.2:p.Ala592Val
XM_011537072.2:c.1667C>T	XP_011535374.1:p.Ala556Val
XM_017021582.1:c.1925C>T	XP_016877071.1:p.Ala642Val
XM_017021583.1:c.1916C>T	XP_016877072.1:p.Ala639Val
XM_017021584.1:c.1835C>T	XP_016877073.1:p.Ala612Val
XM_017021585.1:c.1784C>T	XP_016877074.1:p.Ala595Val
XM_017021586.1:c.1460C>T	XP_016877075.1:p.Ala487Val
XM_017021587.1:c.1460C>T	XP_016877076.1:p.Ala487Val
XM_017021588.1:c.1460C>T	XP_016877077.1:p.Ala487Val
NM_001164749.2:c.1766C>T MANE Select	NP_001158221.1:p.Ala589Val
NM_001165893.2:c.1676C>T	NP_001159365.1:p.Ala559Val
NM_022123.3:c.1670C>T	NP_071406.1:p.Ala557Val
NM_173159.3:c.1727C>T	NP_775182.1:p.Ala576Val
NM_001394988.1:c.1721C>T	NP_001381917.1:p.Ala574Val
NM_001394989.1:c.1667C>T	NP_001381918.1:p.Ala556Val