Canonical Allele Identifier: CA389413489

Gene: NPAS3

Linked Data

• gnomAD v4: 14-33800313-C-A
• MyVariant Identifiers: chr14:g.34269519C>A (hg19) ; chr14:g.33800313C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800313C>A , CM000676.2:g.33800313C>A	GRCh38
NC_000014.8:g.34269519C>A , CM000676.1:g.34269519C>A	GRCh37
NC_000014.7:g.33339270C>A	NCBI36
NG_013036.1:g.866061C>A
NG_013036.2:g.866061C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.2006C>A MANE Select	ENSP00000348460.4:p.Pro669His
ENST00000551634.6:c.2015C>A	ENSP00000448373.2:p.Pro672His
ENST00000680362.1:c.1906C>A
ENST00000681323.1:c.793+2732C>A
ENST00000346562.6:c.1910C>A	ENSP00000319610.5:p.Pro637His
ENST00000356141.8:c.2006C>A	ENSP00000348460.4:p.Pro669His
ENST00000357798.9:c.1967C>A	ENSP00000350446.5:p.Pro656His
ENST00000548645.5:c.1916C>A	ENSP00000448916.1:p.Pro639His
ENST00000551492.5:c.2021C>A	ENSP00000450392.1:p.Pro674His
ENST00000551634.5:c.1928C>A	ENSP00000448373.1:p.Pro643His
NM_001164749.1:c.2006C>A	NP_001158221.1:p.Pro669His
NM_001165893.1:c.1916C>A	NP_001159365.1:p.Pro639His
NM_022123.2:c.1910C>A	NP_071406.1:p.Pro637His
NM_173159.2:c.1967C>A	NP_775182.1:p.Pro656His
XM_005267991.2:c.2027C>A	XP_005268048.1:p.Pro676His
XM_005267992.2:c.2021C>A	XP_005268049.1:p.Pro674His
XM_005267993.2:c.1967C>A	XP_005268050.1:p.Pro656His
XM_011537067.1:c.2057C>A	XP_011535369.1:p.Pro686His
XM_011537068.1:c.2048C>A	XP_011535370.1:p.Pro683His
XM_011537069.1:c.2018C>A	XP_011535371.1:p.Pro673His
XM_011537070.1:c.1961C>A	XP_011535372.1:p.Pro654His
XM_011537071.1:c.1928C>A	XP_011535373.1:p.Pro643His
XM_011537072.1:c.1907C>A	XP_011535374.1:p.Pro636His
XM_011537073.1:c.1700C>A	XP_011535375.1:p.Pro567His
XM_011537074.1:c.1700C>A	XP_011535376.1:p.Pro567His
XM_005267991.3:c.2114C>A	XP_005268048.2:p.Pro705His
XM_005267992.3:c.2108C>A	XP_005268049.2:p.Pro703His
XM_011537067.2:c.2057C>A	XP_011535369.1:p.Pro686His
XM_011537069.2:c.2105C>A	XP_011535371.2:p.Pro702His
XM_011537070.2:c.1961C>A	XP_011535372.1:p.Pro654His
XM_011537071.2:c.2015C>A	XP_011535373.2:p.Pro672His
XM_011537072.2:c.1907C>A	XP_011535374.1:p.Pro636His
XM_017021582.1:c.2165C>A	XP_016877071.1:p.Pro722His
XM_017021583.1:c.2156C>A	XP_016877072.1:p.Pro719His
XM_017021584.1:c.2075C>A	XP_016877073.1:p.Pro692His
XM_017021585.1:c.2024C>A	XP_016877074.1:p.Pro675His
XM_017021586.1:c.1700C>A	XP_016877075.1:p.Pro567His
XM_017021587.1:c.1700C>A	XP_016877076.1:p.Pro567His
XM_017021588.1:c.1700C>A	XP_016877077.1:p.Pro567His
NM_001164749.2:c.2006C>A MANE Select	NP_001158221.1:p.Pro669His
NM_001165893.2:c.1916C>A	NP_001159365.1:p.Pro639His
NM_022123.3:c.1910C>A	NP_071406.1:p.Pro637His
NM_173159.3:c.1967C>A	NP_775182.1:p.Pro656His
NM_001394988.1:c.1961C>A	NP_001381917.1:p.Pro654His
NM_001394989.1:c.1907C>A	NP_001381918.1:p.Pro636His