Canonical Allele Identifier: CA389413138

Gene: NPAS3

Linked Data

• gnomAD v4: 14-33800235-C-A
• COSMIC: COSM4890098 ; COSM4890099 ; COSM4890100
• MyVariant Identifiers: chr14:g.34269441C>A (hg19) ; chr14:g.33800235C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800235C>A , CM000676.2:g.33800235C>A	GRCh38
NC_000014.8:g.34269441C>A , CM000676.1:g.34269441C>A	GRCh37
NC_000014.7:g.33339192C>A	NCBI36
NG_013036.1:g.865983C>A
NG_013036.2:g.865983C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1928C>A MANE Select	ENSP00000348460.4:p.Ala643Asp
ENST00000551634.6:c.1937C>A	ENSP00000448373.2:p.Ala646Asp
ENST00000680362.1:c.1828C>A
ENST00000681323.1:c.793+2654C>A
ENST00000346562.6:c.1832C>A	ENSP00000319610.5:p.Ala611Asp
ENST00000356141.8:c.1928C>A	ENSP00000348460.4:p.Ala643Asp
ENST00000357798.9:c.1889C>A	ENSP00000350446.5:p.Ala630Asp
ENST00000548645.5:c.1838C>A	ENSP00000448916.1:p.Ala613Asp
ENST00000551492.5:c.1943C>A	ENSP00000450392.1:p.Ala648Asp
ENST00000551634.5:c.1850C>A	ENSP00000448373.1:p.Ala617Asp
NM_001164749.1:c.1928C>A	NP_001158221.1:p.Ala643Asp
NM_001165893.1:c.1838C>A	NP_001159365.1:p.Ala613Asp
NM_022123.2:c.1832C>A	NP_071406.1:p.Ala611Asp
NM_173159.2:c.1889C>A	NP_775182.1:p.Ala630Asp
XM_005267991.2:c.1949C>A	XP_005268048.1:p.Ala650Asp
XM_005267992.2:c.1943C>A	XP_005268049.1:p.Ala648Asp
XM_005267993.2:c.1889C>A	XP_005268050.1:p.Ala630Asp
XM_011537067.1:c.1979C>A	XP_011535369.1:p.Ala660Asp
XM_011537068.1:c.1970C>A	XP_011535370.1:p.Ala657Asp
XM_011537069.1:c.1940C>A	XP_011535371.1:p.Ala647Asp
XM_011537070.1:c.1883C>A	XP_011535372.1:p.Ala628Asp
XM_011537071.1:c.1850C>A	XP_011535373.1:p.Ala617Asp
XM_011537072.1:c.1829C>A	XP_011535374.1:p.Ala610Asp
XM_011537073.1:c.1622C>A	XP_011535375.1:p.Ala541Asp
XM_011537074.1:c.1622C>A	XP_011535376.1:p.Ala541Asp
XM_005267991.3:c.2036C>A	XP_005268048.2:p.Ala679Asp
XM_005267992.3:c.2030C>A	XP_005268049.2:p.Ala677Asp
XM_011537067.2:c.1979C>A	XP_011535369.1:p.Ala660Asp
XM_011537069.2:c.2027C>A	XP_011535371.2:p.Ala676Asp
XM_011537070.2:c.1883C>A	XP_011535372.1:p.Ala628Asp
XM_011537071.2:c.1937C>A	XP_011535373.2:p.Ala646Asp
XM_011537072.2:c.1829C>A	XP_011535374.1:p.Ala610Asp
XM_017021582.1:c.2087C>A	XP_016877071.1:p.Ala696Asp
XM_017021583.1:c.2078C>A	XP_016877072.1:p.Ala693Asp
XM_017021584.1:c.1997C>A	XP_016877073.1:p.Ala666Asp
XM_017021585.1:c.1946C>A	XP_016877074.1:p.Ala649Asp
XM_017021586.1:c.1622C>A	XP_016877075.1:p.Ala541Asp
XM_017021587.1:c.1622C>A	XP_016877076.1:p.Ala541Asp
XM_017021588.1:c.1622C>A	XP_016877077.1:p.Ala541Asp
NM_001164749.2:c.1928C>A MANE Select	NP_001158221.1:p.Ala643Asp
NM_001165893.2:c.1838C>A	NP_001159365.1:p.Ala613Asp
NM_022123.3:c.1832C>A	NP_071406.1:p.Ala611Asp
NM_173159.3:c.1889C>A	NP_775182.1:p.Ala630Asp
NM_001394988.1:c.1883C>A	NP_001381917.1:p.Ala628Asp
NM_001394989.1:c.1829C>A	NP_001381918.1:p.Ala610Asp