Canonical Allele Identifier: CA389414341

Gene: NPAS3

Linked Data

• gnomAD v4: 14-33800583-A-C
• MyVariant Identifiers: chr14:g.34269789A>C (hg19) ; chr14:g.33800583A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800583A>C , CM000676.2:g.33800583A>C	GRCh38
NC_000014.8:g.34269789A>C , CM000676.1:g.34269789A>C	GRCh37
NC_000014.7:g.33339540A>C	NCBI36
NG_013036.1:g.866331A>C
NG_013036.2:g.866331A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.2276A>C MANE Select	ENSP00000348460.4:p.His759Pro
ENST00000551634.6:c.2285A>C	ENSP00000448373.2:p.His762Pro
ENST00000680362.1:c.2176A>C
ENST00000681323.1:c.793+3002A>C
ENST00000346562.6:c.2180A>C	ENSP00000319610.5:p.His727Pro
ENST00000356141.8:c.2276A>C	ENSP00000348460.4:p.His759Pro
ENST00000357798.9:c.2237A>C	ENSP00000350446.5:p.His746Pro
ENST00000548645.5:c.2186A>C	ENSP00000448916.1:p.His729Pro
ENST00000551492.5:c.2291A>C	ENSP00000450392.1:p.His764Pro
ENST00000551634.5:c.2198A>C	ENSP00000448373.1:p.His733Pro
NM_001164749.1:c.2276A>C	NP_001158221.1:p.His759Pro
NM_001165893.1:c.2186A>C	NP_001159365.1:p.His729Pro
NM_022123.2:c.2180A>C	NP_071406.1:p.His727Pro
NM_173159.2:c.2237A>C	NP_775182.1:p.His746Pro
XM_005267991.2:c.2297A>C	XP_005268048.1:p.His766Pro
XM_005267992.2:c.2291A>C	XP_005268049.1:p.His764Pro
XM_005267993.2:c.2237A>C	XP_005268050.1:p.His746Pro
XM_011537067.1:c.2327A>C	XP_011535369.1:p.His776Pro
XM_011537068.1:c.2318A>C	XP_011535370.1:p.His773Pro
XM_011537069.1:c.2288A>C	XP_011535371.1:p.His763Pro
XM_011537070.1:c.2231A>C	XP_011535372.1:p.His744Pro
XM_011537071.1:c.2198A>C	XP_011535373.1:p.His733Pro
XM_011537072.1:c.2177A>C	XP_011535374.1:p.His726Pro
XM_011537073.1:c.1970A>C	XP_011535375.1:p.His657Pro
XM_011537074.1:c.1970A>C	XP_011535376.1:p.His657Pro
XM_005267991.3:c.2384A>C	XP_005268048.2:p.His795Pro
XM_005267992.3:c.2378A>C	XP_005268049.2:p.His793Pro
XM_011537067.2:c.2327A>C	XP_011535369.1:p.His776Pro
XM_011537069.2:c.2375A>C	XP_011535371.2:p.His792Pro
XM_011537070.2:c.2231A>C	XP_011535372.1:p.His744Pro
XM_011537071.2:c.2285A>C	XP_011535373.2:p.His762Pro
XM_011537072.2:c.2177A>C	XP_011535374.1:p.His726Pro
XM_017021582.1:c.2435A>C	XP_016877071.1:p.His812Pro
XM_017021583.1:c.2426A>C	XP_016877072.1:p.His809Pro
XM_017021584.1:c.2345A>C	XP_016877073.1:p.His782Pro
XM_017021585.1:c.2294A>C	XP_016877074.1:p.His765Pro
XM_017021586.1:c.1970A>C	XP_016877075.1:p.His657Pro
XM_017021587.1:c.1970A>C	XP_016877076.1:p.His657Pro
XM_017021588.1:c.1970A>C	XP_016877077.1:p.His657Pro
NM_001164749.2:c.2276A>C MANE Select	NP_001158221.1:p.His759Pro
NM_001165893.2:c.2186A>C	NP_001159365.1:p.His729Pro
NM_022123.3:c.2180A>C	NP_071406.1:p.His727Pro
NM_173159.3:c.2237A>C	NP_775182.1:p.His746Pro
NM_001394988.1:c.2231A>C	NP_001381917.1:p.His744Pro
NM_001394989.1:c.2177A>C	NP_001381918.1:p.His726Pro