Canonical Allele Identifier: CA486093139

Gene: NPAS3

Linked Data

• gnomAD v4: 14-33800425-G-C
• MyVariant Identifiers: chr14:g.34269631G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800425G>C , CM000676.2:g.33800425G>C	GRCh38
NC_000014.8:g.34269631G>C , CM000676.1:g.34269631G>C	GRCh37
NC_000014.7:g.33339382G>C	NCBI36
NG_013036.1:g.866173G>C
NG_013036.2:g.866173G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.2118G>C MANE Select	ENSP00000348460.4:p.Gly706=
ENST00000551634.6:c.2127G>C	ENSP00000448373.2:p.Gly709=
ENST00000680362.1:c.2018G>C
ENST00000681323.1:c.793+2844G>C
ENST00000346562.6:c.2022G>C	ENSP00000319610.5:p.Gly674=
ENST00000356141.8:c.2118G>C	ENSP00000348460.4:p.Gly706=
ENST00000357798.9:c.2079G>C	ENSP00000350446.5:p.Gly693=
ENST00000548645.5:c.2028G>C	ENSP00000448916.1:p.Gly676=
ENST00000551492.5:c.2133G>C	ENSP00000450392.1:p.Gly711=
ENST00000551634.5:c.2040G>C	ENSP00000448373.1:p.Gly680=
NM_001164749.1:c.2118G>C	NP_001158221.1:p.Gly706=
NM_001165893.1:c.2028G>C	NP_001159365.1:p.Gly676=
NM_022123.2:c.2022G>C	NP_071406.1:p.Gly674=
NM_173159.2:c.2079G>C	NP_775182.1:p.Gly693=
XM_005267991.2:c.2139G>C	XP_005268048.1:p.Gly713=
XM_005267992.2:c.2133G>C	XP_005268049.1:p.Gly711=
XM_005267993.2:c.2079G>C	XP_005268050.1:p.Gly693=
XM_011537067.1:c.2169G>C	XP_011535369.1:p.Gly723=
XM_011537068.1:c.2160G>C	XP_011535370.1:p.Gly720=
XM_011537069.1:c.2130G>C	XP_011535371.1:p.Gly710=
XM_011537070.1:c.2073G>C	XP_011535372.1:p.Gly691=
XM_011537071.1:c.2040G>C	XP_011535373.1:p.Gly680=
XM_011537072.1:c.2019G>C	XP_011535374.1:p.Gly673=
XM_011537073.1:c.1812G>C	XP_011535375.1:p.Gly604=
XM_011537074.1:c.1812G>C	XP_011535376.1:p.Gly604=
XM_005267991.3:c.2226G>C	XP_005268048.2:p.Gly742=
XM_005267992.3:c.2220G>C	XP_005268049.2:p.Gly740=
XM_011537067.2:c.2169G>C	XP_011535369.1:p.Gly723=
XM_011537069.2:c.2217G>C	XP_011535371.2:p.Gly739=
XM_011537070.2:c.2073G>C	XP_011535372.1:p.Gly691=
XM_011537071.2:c.2127G>C	XP_011535373.2:p.Gly709=
XM_011537072.2:c.2019G>C	XP_011535374.1:p.Gly673=
XM_017021582.1:c.2277G>C	XP_016877071.1:p.Gly759=
XM_017021583.1:c.2268G>C	XP_016877072.1:p.Gly756=
XM_017021584.1:c.2187G>C	XP_016877073.1:p.Gly729=
XM_017021585.1:c.2136G>C	XP_016877074.1:p.Gly712=
XM_017021586.1:c.1812G>C	XP_016877075.1:p.Gly604=
XM_017021587.1:c.1812G>C	XP_016877076.1:p.Gly604=
XM_017021588.1:c.1812G>C	XP_016877077.1:p.Gly604=
NM_001164749.2:c.2118G>C MANE Select	NP_001158221.1:p.Gly706=
NM_001165893.2:c.2028G>C	NP_001159365.1:p.Gly676=
NM_022123.3:c.2022G>C	NP_071406.1:p.Gly674=
NM_173159.3:c.2079G>C	NP_775182.1:p.Gly693=
NM_001394988.1:c.2073G>C	NP_001381917.1:p.Gly691=
NM_001394989.1:c.2019G>C	NP_001381918.1:p.Gly673=