Canonical Allele Identifier: CA389413972

Gene: NPAS3

Linked Data

• MyVariant Identifiers: chr14:g.34269629G>C (hg19) ; chr14:g.33800423G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800423G>C , CM000676.2:g.33800423G>C	GRCh38
NC_000014.8:g.34269629G>C , CM000676.1:g.34269629G>C	GRCh37
NC_000014.7:g.33339380G>C	NCBI36
NG_013036.1:g.866171G>C
NG_013036.2:g.866171G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.2116G>C MANE Select	ENSP00000348460.4:p.Gly706Arg
ENST00000551634.6:c.2125G>C	ENSP00000448373.2:p.Gly709Arg
ENST00000680362.1:c.2016G>C
ENST00000681323.1:c.793+2842G>C
ENST00000346562.6:c.2020G>C	ENSP00000319610.5:p.Gly674Arg
ENST00000356141.8:c.2116G>C	ENSP00000348460.4:p.Gly706Arg
ENST00000357798.9:c.2077G>C	ENSP00000350446.5:p.Gly693Arg
ENST00000548645.5:c.2026G>C	ENSP00000448916.1:p.Gly676Arg
ENST00000551492.5:c.2131G>C	ENSP00000450392.1:p.Gly711Arg
ENST00000551634.5:c.2038G>C	ENSP00000448373.1:p.Gly680Arg
NM_001164749.1:c.2116G>C	NP_001158221.1:p.Gly706Arg
NM_001165893.1:c.2026G>C	NP_001159365.1:p.Gly676Arg
NM_022123.2:c.2020G>C	NP_071406.1:p.Gly674Arg
NM_173159.2:c.2077G>C	NP_775182.1:p.Gly693Arg
XM_005267991.2:c.2137G>C	XP_005268048.1:p.Gly713Arg
XM_005267992.2:c.2131G>C	XP_005268049.1:p.Gly711Arg
XM_005267993.2:c.2077G>C	XP_005268050.1:p.Gly693Arg
XM_011537067.1:c.2167G>C	XP_011535369.1:p.Gly723Arg
XM_011537068.1:c.2158G>C	XP_011535370.1:p.Gly720Arg
XM_011537069.1:c.2128G>C	XP_011535371.1:p.Gly710Arg
XM_011537070.1:c.2071G>C	XP_011535372.1:p.Gly691Arg
XM_011537071.1:c.2038G>C	XP_011535373.1:p.Gly680Arg
XM_011537072.1:c.2017G>C	XP_011535374.1:p.Gly673Arg
XM_011537073.1:c.1810G>C	XP_011535375.1:p.Gly604Arg
XM_011537074.1:c.1810G>C	XP_011535376.1:p.Gly604Arg
XM_005267991.3:c.2224G>C	XP_005268048.2:p.Gly742Arg
XM_005267992.3:c.2218G>C	XP_005268049.2:p.Gly740Arg
XM_011537067.2:c.2167G>C	XP_011535369.1:p.Gly723Arg
XM_011537069.2:c.2215G>C	XP_011535371.2:p.Gly739Arg
XM_011537070.2:c.2071G>C	XP_011535372.1:p.Gly691Arg
XM_011537071.2:c.2125G>C	XP_011535373.2:p.Gly709Arg
XM_011537072.2:c.2017G>C	XP_011535374.1:p.Gly673Arg
XM_017021582.1:c.2275G>C	XP_016877071.1:p.Gly759Arg
XM_017021583.1:c.2266G>C	XP_016877072.1:p.Gly756Arg
XM_017021584.1:c.2185G>C	XP_016877073.1:p.Gly729Arg
XM_017021585.1:c.2134G>C	XP_016877074.1:p.Gly712Arg
XM_017021586.1:c.1810G>C	XP_016877075.1:p.Gly604Arg
XM_017021587.1:c.1810G>C	XP_016877076.1:p.Gly604Arg
XM_017021588.1:c.1810G>C	XP_016877077.1:p.Gly604Arg
NM_001164749.2:c.2116G>C MANE Select	NP_001158221.1:p.Gly706Arg
NM_001165893.2:c.2026G>C	NP_001159365.1:p.Gly676Arg
NM_022123.3:c.2020G>C	NP_071406.1:p.Gly674Arg
NM_173159.3:c.2077G>C	NP_775182.1:p.Gly693Arg
NM_001394988.1:c.2071G>C	NP_001381917.1:p.Gly691Arg
NM_001394989.1:c.2017G>C	NP_001381918.1:p.Gly673Arg