Canonical Allele Identifier: CA7150871

Gene: NPAS3

Linked Data

• dbSNP Id: rs769133720
• ExAC: 14:34269275 G / A
• gnomAD v2: 14-34269275-G-A
• gnomAD v3: 14-33800069-G-A
• gnomAD v4: 14-33800069-G-A
• COSMIC: COSM4707736 ; COSM4707737 ; COSM4707738
• MyVariant Identifiers: chr14:g.34269275G>A (hg19) ; chr14:g.33800069G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800069G>A , CM000676.2:g.33800069G>A	GRCh38
NC_000014.8:g.34269275G>A , CM000676.1:g.34269275G>A	GRCh37
NC_000014.7:g.33339026G>A	NCBI36
NG_013036.1:g.865817G>A
NG_013036.2:g.865817G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1762G>A MANE Select	ENSP00000348460.4:p.Glu588Lys
ENST00000551634.6:c.1771G>A	ENSP00000448373.2:p.Glu591Lys
ENST00000680362.1:c.1662G>A
ENST00000681323.1:c.793+2488G>A
ENST00000346562.6:c.1666G>A	ENSP00000319610.5:p.Glu556Lys
ENST00000356141.8:c.1762G>A	ENSP00000348460.4:p.Glu588Lys
ENST00000357798.9:c.1723G>A	ENSP00000350446.5:p.Glu575Lys
ENST00000548645.5:c.1672G>A	ENSP00000448916.1:p.Glu558Lys
ENST00000551492.5:c.1777G>A	ENSP00000450392.1:p.Glu593Lys
ENST00000551634.5:c.1684G>A	ENSP00000448373.1:p.Glu562Lys
NM_001164749.1:c.1762G>A	NP_001158221.1:p.Glu588Lys
NM_001165893.1:c.1672G>A	NP_001159365.1:p.Glu558Lys
NM_022123.2:c.1666G>A	NP_071406.1:p.Glu556Lys
NM_173159.2:c.1723G>A	NP_775182.1:p.Glu575Lys
XM_005267991.2:c.1783G>A	XP_005268048.1:p.Glu595Lys
XM_005267992.2:c.1777G>A	XP_005268049.1:p.Glu593Lys
XM_005267993.2:c.1723G>A	XP_005268050.1:p.Glu575Lys
XM_011537067.1:c.1813G>A	XP_011535369.1:p.Glu605Lys
XM_011537068.1:c.1804G>A	XP_011535370.1:p.Glu602Lys
XM_011537069.1:c.1774G>A	XP_011535371.1:p.Glu592Lys
XM_011537070.1:c.1717G>A	XP_011535372.1:p.Glu573Lys
XM_011537071.1:c.1684G>A	XP_011535373.1:p.Glu562Lys
XM_011537072.1:c.1663G>A	XP_011535374.1:p.Glu555Lys
XM_011537073.1:c.1456G>A	XP_011535375.1:p.Glu486Lys
XM_011537074.1:c.1456G>A	XP_011535376.1:p.Glu486Lys
XM_005267991.3:c.1870G>A	XP_005268048.2:p.Glu624Lys
XM_005267992.3:c.1864G>A	XP_005268049.2:p.Glu622Lys
XM_011537067.2:c.1813G>A	XP_011535369.1:p.Glu605Lys
XM_011537069.2:c.1861G>A	XP_011535371.2:p.Glu621Lys
XM_011537070.2:c.1717G>A	XP_011535372.1:p.Glu573Lys
XM_011537071.2:c.1771G>A	XP_011535373.2:p.Glu591Lys
XM_011537072.2:c.1663G>A	XP_011535374.1:p.Glu555Lys
XM_017021582.1:c.1921G>A	XP_016877071.1:p.Glu641Lys
XM_017021583.1:c.1912G>A	XP_016877072.1:p.Glu638Lys
XM_017021584.1:c.1831G>A	XP_016877073.1:p.Glu611Lys
XM_017021585.1:c.1780G>A	XP_016877074.1:p.Glu594Lys
XM_017021586.1:c.1456G>A	XP_016877075.1:p.Glu486Lys
XM_017021587.1:c.1456G>A	XP_016877076.1:p.Glu486Lys
XM_017021588.1:c.1456G>A	XP_016877077.1:p.Glu486Lys
NM_001164749.2:c.1762G>A MANE Select	NP_001158221.1:p.Glu588Lys
NM_001165893.2:c.1672G>A	NP_001159365.1:p.Glu558Lys
NM_022123.3:c.1666G>A	NP_071406.1:p.Glu556Lys
NM_173159.3:c.1723G>A	NP_775182.1:p.Glu575Lys
NM_001394988.1:c.1717G>A	NP_001381917.1:p.Glu573Lys
NM_001394989.1:c.1663G>A	NP_001381918.1:p.Glu555Lys