Canonical Allele Identifier: CA258719138

Gene: NPAS3

Linked Data

• dbSNP Id: rs1033310782
• gnomAD v2: 14-34269625-C-T
• gnomAD v3: 14-33800419-C-T
• gnomAD v4: 14-33800419-C-T
• MyVariant Identifiers: chr14:g.34269625C>T (hg19) ; chr14:g.33800419C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800419C>T , CM000676.2:g.33800419C>T	GRCh38
NC_000014.8:g.34269625C>T , CM000676.1:g.34269625C>T	GRCh37
NC_000014.7:g.33339376C>T	NCBI36
NG_013036.1:g.866167C>T
NG_013036.2:g.866167C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.2112C>T MANE Select	ENSP00000348460.4:p.Gly704=
ENST00000551634.6:c.2121C>T	ENSP00000448373.2:p.Gly707=
ENST00000680362.1:c.2012C>T
ENST00000681323.1:c.793+2838C>T
ENST00000346562.6:c.2016C>T	ENSP00000319610.5:p.Gly672=
ENST00000356141.8:c.2112C>T	ENSP00000348460.4:p.Gly704=
ENST00000357798.9:c.2073C>T	ENSP00000350446.5:p.Gly691=
ENST00000548645.5:c.2022C>T	ENSP00000448916.1:p.Gly674=
ENST00000551492.5:c.2127C>T	ENSP00000450392.1:p.Gly709=
ENST00000551634.5:c.2034C>T	ENSP00000448373.1:p.Gly678=
NM_001164749.1:c.2112C>T	NP_001158221.1:p.Gly704=
NM_001165893.1:c.2022C>T	NP_001159365.1:p.Gly674=
NM_022123.2:c.2016C>T	NP_071406.1:p.Gly672=
NM_173159.2:c.2073C>T	NP_775182.1:p.Gly691=
XM_005267991.2:c.2133C>T	XP_005268048.1:p.Gly711=
XM_005267992.2:c.2127C>T	XP_005268049.1:p.Gly709=
XM_005267993.2:c.2073C>T	XP_005268050.1:p.Gly691=
XM_011537067.1:c.2163C>T	XP_011535369.1:p.Gly721=
XM_011537068.1:c.2154C>T	XP_011535370.1:p.Gly718=
XM_011537069.1:c.2124C>T	XP_011535371.1:p.Gly708=
XM_011537070.1:c.2067C>T	XP_011535372.1:p.Gly689=
XM_011537071.1:c.2034C>T	XP_011535373.1:p.Gly678=
XM_011537072.1:c.2013C>T	XP_011535374.1:p.Gly671=
XM_011537073.1:c.1806C>T	XP_011535375.1:p.Gly602=
XM_011537074.1:c.1806C>T	XP_011535376.1:p.Gly602=
XM_005267991.3:c.2220C>T	XP_005268048.2:p.Gly740=
XM_005267992.3:c.2214C>T	XP_005268049.2:p.Gly738=
XM_011537067.2:c.2163C>T	XP_011535369.1:p.Gly721=
XM_011537069.2:c.2211C>T	XP_011535371.2:p.Gly737=
XM_011537070.2:c.2067C>T	XP_011535372.1:p.Gly689=
XM_011537071.2:c.2121C>T	XP_011535373.2:p.Gly707=
XM_011537072.2:c.2013C>T	XP_011535374.1:p.Gly671=
XM_017021582.1:c.2271C>T	XP_016877071.1:p.Gly757=
XM_017021583.1:c.2262C>T	XP_016877072.1:p.Gly754=
XM_017021584.1:c.2181C>T	XP_016877073.1:p.Gly727=
XM_017021585.1:c.2130C>T	XP_016877074.1:p.Gly710=
XM_017021586.1:c.1806C>T	XP_016877075.1:p.Gly602=
XM_017021587.1:c.1806C>T	XP_016877076.1:p.Gly602=
XM_017021588.1:c.1806C>T	XP_016877077.1:p.Gly602=
NM_001164749.2:c.2112C>T MANE Select	NP_001158221.1:p.Gly704=
NM_001165893.2:c.2022C>T	NP_001159365.1:p.Gly674=
NM_022123.3:c.2016C>T	NP_071406.1:p.Gly672=
NM_173159.3:c.2073C>T	NP_775182.1:p.Gly691=
NM_001394988.1:c.2067C>T	NP_001381917.1:p.Gly689=
NM_001394989.1:c.2013C>T	NP_001381918.1:p.Gly671=