Canonical Allele Identifier: CA7150890

Gene: NPAS3

Linked Data

• dbSNP Id: rs777125611
• ExAC: 14:34269347 G / A
• gnomAD v2: 14-34269347-G-A
• gnomAD v3: 14-33800141-G-A
• gnomAD v4: 14-33800141-G-A
• COSMIC: COSM2195712 ; COSM2195713 ; COSM2195714
• MyVariant Identifiers: chr14:g.34269347G>A (hg19) ; chr14:g.33800141G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800141G>A , CM000676.2:g.33800141G>A	GRCh38
NC_000014.8:g.34269347G>A , CM000676.1:g.34269347G>A	GRCh37
NC_000014.7:g.33339098G>A	NCBI36
NG_013036.1:g.865889G>A
NG_013036.2:g.865889G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1834G>A MANE Select	ENSP00000348460.4:p.Ala612Thr
ENST00000551634.6:c.1843G>A	ENSP00000448373.2:p.Ala615Thr
ENST00000680362.1:c.1734G>A
ENST00000681323.1:c.793+2560G>A
ENST00000346562.6:c.1738G>A	ENSP00000319610.5:p.Ala580Thr
ENST00000356141.8:c.1834G>A	ENSP00000348460.4:p.Ala612Thr
ENST00000357798.9:c.1795G>A	ENSP00000350446.5:p.Ala599Thr
ENST00000548645.5:c.1744G>A	ENSP00000448916.1:p.Ala582Thr
ENST00000551492.5:c.1849G>A	ENSP00000450392.1:p.Ala617Thr
ENST00000551634.5:c.1756G>A	ENSP00000448373.1:p.Ala586Thr
NM_001164749.1:c.1834G>A	NP_001158221.1:p.Ala612Thr
NM_001165893.1:c.1744G>A	NP_001159365.1:p.Ala582Thr
NM_022123.2:c.1738G>A	NP_071406.1:p.Ala580Thr
NM_173159.2:c.1795G>A	NP_775182.1:p.Ala599Thr
XM_005267991.2:c.1855G>A	XP_005268048.1:p.Ala619Thr
XM_005267992.2:c.1849G>A	XP_005268049.1:p.Ala617Thr
XM_005267993.2:c.1795G>A	XP_005268050.1:p.Ala599Thr
XM_011537067.1:c.1885G>A	XP_011535369.1:p.Ala629Thr
XM_011537068.1:c.1876G>A	XP_011535370.1:p.Ala626Thr
XM_011537069.1:c.1846G>A	XP_011535371.1:p.Ala616Thr
XM_011537070.1:c.1789G>A	XP_011535372.1:p.Ala597Thr
XM_011537071.1:c.1756G>A	XP_011535373.1:p.Ala586Thr
XM_011537072.1:c.1735G>A	XP_011535374.1:p.Ala579Thr
XM_011537073.1:c.1528G>A	XP_011535375.1:p.Ala510Thr
XM_011537074.1:c.1528G>A	XP_011535376.1:p.Ala510Thr
XM_005267991.3:c.1942G>A	XP_005268048.2:p.Ala648Thr
XM_005267992.3:c.1936G>A	XP_005268049.2:p.Ala646Thr
XM_011537067.2:c.1885G>A	XP_011535369.1:p.Ala629Thr
XM_011537069.2:c.1933G>A	XP_011535371.2:p.Ala645Thr
XM_011537070.2:c.1789G>A	XP_011535372.1:p.Ala597Thr
XM_011537071.2:c.1843G>A	XP_011535373.2:p.Ala615Thr
XM_011537072.2:c.1735G>A	XP_011535374.1:p.Ala579Thr
XM_017021582.1:c.1993G>A	XP_016877071.1:p.Ala665Thr
XM_017021583.1:c.1984G>A	XP_016877072.1:p.Ala662Thr
XM_017021584.1:c.1903G>A	XP_016877073.1:p.Ala635Thr
XM_017021585.1:c.1852G>A	XP_016877074.1:p.Ala618Thr
XM_017021586.1:c.1528G>A	XP_016877075.1:p.Ala510Thr
XM_017021587.1:c.1528G>A	XP_016877076.1:p.Ala510Thr
XM_017021588.1:c.1528G>A	XP_016877077.1:p.Ala510Thr
NM_001164749.2:c.1834G>A MANE Select	NP_001158221.1:p.Ala612Thr
NM_001165893.2:c.1744G>A	NP_001159365.1:p.Ala582Thr
NM_022123.3:c.1738G>A	NP_071406.1:p.Ala580Thr
NM_173159.3:c.1795G>A	NP_775182.1:p.Ala599Thr
NM_001394988.1:c.1789G>A	NP_001381917.1:p.Ala597Thr
NM_001394989.1:c.1735G>A	NP_001381918.1:p.Ala579Thr