Canonical Allele Identifier: CA486092950

Gene: NPAS3

Linked Data

• dbSNP Id: rs1336029070
• gnomAD v2: 14-34269442-C-T
• gnomAD v4: 14-33800236-C-T
• MyVariant Identifiers: chr14:g.34269442C>T (hg19) ; chr14:g.33800236C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800236C>T , CM000676.2:g.33800236C>T	GRCh38
NC_000014.8:g.34269442C>T , CM000676.1:g.34269442C>T	GRCh37
NC_000014.7:g.33339193C>T	NCBI36
NG_013036.1:g.865984C>T
NG_013036.2:g.865984C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1929C>T MANE Select	ENSP00000348460.4:p.Ala643=
ENST00000551634.6:c.1938C>T	ENSP00000448373.2:p.Ala646=
ENST00000680362.1:c.1829C>T
ENST00000681323.1:c.793+2655C>T
ENST00000346562.6:c.1833C>T	ENSP00000319610.5:p.Ala611=
ENST00000356141.8:c.1929C>T	ENSP00000348460.4:p.Ala643=
ENST00000357798.9:c.1890C>T	ENSP00000350446.5:p.Ala630=
ENST00000548645.5:c.1839C>T	ENSP00000448916.1:p.Ala613=
ENST00000551492.5:c.1944C>T	ENSP00000450392.1:p.Ala648=
ENST00000551634.5:c.1851C>T	ENSP00000448373.1:p.Ala617=
NM_001164749.1:c.1929C>T	NP_001158221.1:p.Ala643=
NM_001165893.1:c.1839C>T	NP_001159365.1:p.Ala613=
NM_022123.2:c.1833C>T	NP_071406.1:p.Ala611=
NM_173159.2:c.1890C>T	NP_775182.1:p.Ala630=
XM_005267991.2:c.1950C>T	XP_005268048.1:p.Ala650=
XM_005267992.2:c.1944C>T	XP_005268049.1:p.Ala648=
XM_005267993.2:c.1890C>T	XP_005268050.1:p.Ala630=
XM_011537067.1:c.1980C>T	XP_011535369.1:p.Ala660=
XM_011537068.1:c.1971C>T	XP_011535370.1:p.Ala657=
XM_011537069.1:c.1941C>T	XP_011535371.1:p.Ala647=
XM_011537070.1:c.1884C>T	XP_011535372.1:p.Ala628=
XM_011537071.1:c.1851C>T	XP_011535373.1:p.Ala617=
XM_011537072.1:c.1830C>T	XP_011535374.1:p.Ala610=
XM_011537073.1:c.1623C>T	XP_011535375.1:p.Ala541=
XM_011537074.1:c.1623C>T	XP_011535376.1:p.Ala541=
XM_005267991.3:c.2037C>T	XP_005268048.2:p.Ala679=
XM_005267992.3:c.2031C>T	XP_005268049.2:p.Ala677=
XM_011537067.2:c.1980C>T	XP_011535369.1:p.Ala660=
XM_011537069.2:c.2028C>T	XP_011535371.2:p.Ala676=
XM_011537070.2:c.1884C>T	XP_011535372.1:p.Ala628=
XM_011537071.2:c.1938C>T	XP_011535373.2:p.Ala646=
XM_011537072.2:c.1830C>T	XP_011535374.1:p.Ala610=
XM_017021582.1:c.2088C>T	XP_016877071.1:p.Ala696=
XM_017021583.1:c.2079C>T	XP_016877072.1:p.Ala693=
XM_017021584.1:c.1998C>T	XP_016877073.1:p.Ala666=
XM_017021585.1:c.1947C>T	XP_016877074.1:p.Ala649=
XM_017021586.1:c.1623C>T	XP_016877075.1:p.Ala541=
XM_017021587.1:c.1623C>T	XP_016877076.1:p.Ala541=
XM_017021588.1:c.1623C>T	XP_016877077.1:p.Ala541=
NM_001164749.2:c.1929C>T MANE Select	NP_001158221.1:p.Ala643=
NM_001165893.2:c.1839C>T	NP_001159365.1:p.Ala613=
NM_022123.3:c.1833C>T	NP_071406.1:p.Ala611=
NM_173159.3:c.1890C>T	NP_775182.1:p.Ala630=
NM_001394988.1:c.1884C>T	NP_001381917.1:p.Ala628=
NM_001394989.1:c.1830C>T	NP_001381918.1:p.Ala610=