Canonical Allele Identifier: CA389413992

Gene: NPAS3

Linked Data

• gnomAD v4: 14-33800429-C-A
• MyVariant Identifiers: chr14:g.34269635C>A (hg19) ; chr14:g.33800429C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800429C>A , CM000676.2:g.33800429C>A	GRCh38
NC_000014.8:g.34269635C>A , CM000676.1:g.34269635C>A	GRCh37
NC_000014.7:g.33339386C>A	NCBI36
NG_013036.1:g.866177C>A
NG_013036.2:g.866177C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.2122C>A MANE Select	ENSP00000348460.4:p.His708Asn
ENST00000551634.6:c.2131C>A	ENSP00000448373.2:p.His711Asn
ENST00000680362.1:c.2022C>A
ENST00000681323.1:c.793+2848C>A
ENST00000346562.6:c.2026C>A	ENSP00000319610.5:p.His676Asn
ENST00000356141.8:c.2122C>A	ENSP00000348460.4:p.His708Asn
ENST00000357798.9:c.2083C>A	ENSP00000350446.5:p.His695Asn
ENST00000548645.5:c.2032C>A	ENSP00000448916.1:p.His678Asn
ENST00000551492.5:c.2137C>A	ENSP00000450392.1:p.His713Asn
ENST00000551634.5:c.2044C>A	ENSP00000448373.1:p.His682Asn
NM_001164749.1:c.2122C>A	NP_001158221.1:p.His708Asn
NM_001165893.1:c.2032C>A	NP_001159365.1:p.His678Asn
NM_022123.2:c.2026C>A	NP_071406.1:p.His676Asn
NM_173159.2:c.2083C>A	NP_775182.1:p.His695Asn
XM_005267991.2:c.2143C>A	XP_005268048.1:p.His715Asn
XM_005267992.2:c.2137C>A	XP_005268049.1:p.His713Asn
XM_005267993.2:c.2083C>A	XP_005268050.1:p.His695Asn
XM_011537067.1:c.2173C>A	XP_011535369.1:p.His725Asn
XM_011537068.1:c.2164C>A	XP_011535370.1:p.His722Asn
XM_011537069.1:c.2134C>A	XP_011535371.1:p.His712Asn
XM_011537070.1:c.2077C>A	XP_011535372.1:p.His693Asn
XM_011537071.1:c.2044C>A	XP_011535373.1:p.His682Asn
XM_011537072.1:c.2023C>A	XP_011535374.1:p.His675Asn
XM_011537073.1:c.1816C>A	XP_011535375.1:p.His606Asn
XM_011537074.1:c.1816C>A	XP_011535376.1:p.His606Asn
XM_005267991.3:c.2230C>A	XP_005268048.2:p.His744Asn
XM_005267992.3:c.2224C>A	XP_005268049.2:p.His742Asn
XM_011537067.2:c.2173C>A	XP_011535369.1:p.His725Asn
XM_011537069.2:c.2221C>A	XP_011535371.2:p.His741Asn
XM_011537070.2:c.2077C>A	XP_011535372.1:p.His693Asn
XM_011537071.2:c.2131C>A	XP_011535373.2:p.His711Asn
XM_011537072.2:c.2023C>A	XP_011535374.1:p.His675Asn
XM_017021582.1:c.2281C>A	XP_016877071.1:p.His761Asn
XM_017021583.1:c.2272C>A	XP_016877072.1:p.His758Asn
XM_017021584.1:c.2191C>A	XP_016877073.1:p.His731Asn
XM_017021585.1:c.2140C>A	XP_016877074.1:p.His714Asn
XM_017021586.1:c.1816C>A	XP_016877075.1:p.His606Asn
XM_017021587.1:c.1816C>A	XP_016877076.1:p.His606Asn
XM_017021588.1:c.1816C>A	XP_016877077.1:p.His606Asn
NM_001164749.2:c.2122C>A MANE Select	NP_001158221.1:p.His708Asn
NM_001165893.2:c.2032C>A	NP_001159365.1:p.His678Asn
NM_022123.3:c.2026C>A	NP_071406.1:p.His676Asn
NM_173159.3:c.2083C>A	NP_775182.1:p.His695Asn
NM_001394988.1:c.2077C>A	NP_001381917.1:p.His693Asn
NM_001394989.1:c.2023C>A	NP_001381918.1:p.His675Asn