Canonical Allele Identifier: CA389414020

Gene: NPAS3

Linked Data

• MyVariant Identifiers: chr14:g.34269641G>C (hg19) ; chr14:g.33800435G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800435G>C , CM000676.2:g.33800435G>C	GRCh38
NC_000014.8:g.34269641G>C , CM000676.1:g.34269641G>C	GRCh37
NC_000014.7:g.33339392G>C	NCBI36
NG_013036.1:g.866183G>C
NG_013036.2:g.866183G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000356141.9:c.2128G>C MANE Select	ENSP00000348460.4:p.Ala710Pro
ENST00000551634.6:c.2137G>C	ENSP00000448373.2:p.Ala713Pro
ENST00000680362.1:c.2028G>C
ENST00000681323.1:c.793+2854G>C
ENST00000346562.6:c.2032G>C	ENSP00000319610.5:p.Ala678Pro
ENST00000356141.8:c.2128G>C	ENSP00000348460.4:p.Ala710Pro
ENST00000357798.9:c.2089G>C	ENSP00000350446.5:p.Ala697Pro
ENST00000548645.5:c.2038G>C	ENSP00000448916.1:p.Ala680Pro
ENST00000551492.5:c.2143G>C	ENSP00000450392.1:p.Ala715Pro
ENST00000551634.5:c.2050G>C	ENSP00000448373.1:p.Ala684Pro
NM_001164749.1:c.2128G>C	NP_001158221.1:p.Ala710Pro
NM_001165893.1:c.2038G>C	NP_001159365.1:p.Ala680Pro
NM_022123.2:c.2032G>C	NP_071406.1:p.Ala678Pro
NM_173159.2:c.2089G>C	NP_775182.1:p.Ala697Pro
XM_005267991.2:c.2149G>C	XP_005268048.1:p.Ala717Pro
XM_005267992.2:c.2143G>C	XP_005268049.1:p.Ala715Pro
XM_005267993.2:c.2089G>C	XP_005268050.1:p.Ala697Pro
XM_011537067.1:c.2179G>C	XP_011535369.1:p.Ala727Pro
XM_011537068.1:c.2170G>C	XP_011535370.1:p.Ala724Pro
XM_011537069.1:c.2140G>C	XP_011535371.1:p.Ala714Pro
XM_011537070.1:c.2083G>C	XP_011535372.1:p.Ala695Pro
XM_011537071.1:c.2050G>C	XP_011535373.1:p.Ala684Pro
XM_011537072.1:c.2029G>C	XP_011535374.1:p.Ala677Pro
XM_011537073.1:c.1822G>C	XP_011535375.1:p.Ala608Pro
XM_011537074.1:c.1822G>C	XP_011535376.1:p.Ala608Pro
XM_005267991.3:c.2236G>C	XP_005268048.2:p.Ala746Pro
XM_005267992.3:c.2230G>C	XP_005268049.2:p.Ala744Pro
XM_011537067.2:c.2179G>C	XP_011535369.1:p.Ala727Pro
XM_011537069.2:c.2227G>C	XP_011535371.2:p.Ala743Pro
XM_011537070.2:c.2083G>C	XP_011535372.1:p.Ala695Pro
XM_011537071.2:c.2137G>C	XP_011535373.2:p.Ala713Pro
XM_011537072.2:c.2029G>C	XP_011535374.1:p.Ala677Pro
XM_017021582.1:c.2287G>C	XP_016877071.1:p.Ala763Pro
XM_017021583.1:c.2278G>C	XP_016877072.1:p.Ala760Pro
XM_017021584.1:c.2197G>C	XP_016877073.1:p.Ala733Pro
XM_017021585.1:c.2146G>C	XP_016877074.1:p.Ala716Pro
XM_017021586.1:c.1822G>C	XP_016877075.1:p.Ala608Pro
XM_017021587.1:c.1822G>C	XP_016877076.1:p.Ala608Pro
XM_017021588.1:c.1822G>C	XP_016877077.1:p.Ala608Pro
NM_001164749.2:c.2128G>C MANE Select	NP_001158221.1:p.Ala710Pro
NM_001165893.2:c.2038G>C	NP_001159365.1:p.Ala680Pro
NM_022123.3:c.2032G>C	NP_071406.1:p.Ala678Pro
NM_173159.3:c.2089G>C	NP_775182.1:p.Ala697Pro
NM_001394988.1:c.2083G>C	NP_001381917.1:p.Ala695Pro
NM_001394989.1:c.2029G>C	NP_001381918.1:p.Ala677Pro