Canonical Allele Identifier: CA389414355

Gene: NPAS3

Linked Data

• gnomAD v4: 14-33800589-G-A
• MyVariant Identifiers: chr14:g.34269795G>A (hg19) ; chr14:g.33800589G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800589G>A , CM000676.2:g.33800589G>A	GRCh38
NC_000014.8:g.34269795G>A , CM000676.1:g.34269795G>A	GRCh37
NC_000014.7:g.33339546G>A	NCBI36
NG_013036.1:g.866337G>A
NG_013036.2:g.866337G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.2282G>A MANE Select	ENSP00000348460.4:p.Gly761Glu
ENST00000551634.6:c.2291G>A	ENSP00000448373.2:p.Gly764Glu
ENST00000680362.1:c.2182G>A
ENST00000681323.1:c.793+3008G>A
ENST00000346562.6:c.2186G>A	ENSP00000319610.5:p.Gly729Glu
ENST00000356141.8:c.2282G>A	ENSP00000348460.4:p.Gly761Glu
ENST00000357798.9:c.2243G>A	ENSP00000350446.5:p.Gly748Glu
ENST00000548645.5:c.2192G>A	ENSP00000448916.1:p.Gly731Glu
ENST00000551492.5:c.2297G>A	ENSP00000450392.1:p.Gly766Glu
ENST00000551634.5:c.2204G>A	ENSP00000448373.1:p.Gly735Glu
NM_001164749.1:c.2282G>A	NP_001158221.1:p.Gly761Glu
NM_001165893.1:c.2192G>A	NP_001159365.1:p.Gly731Glu
NM_022123.2:c.2186G>A	NP_071406.1:p.Gly729Glu
NM_173159.2:c.2243G>A	NP_775182.1:p.Gly748Glu
XM_005267991.2:c.2303G>A	XP_005268048.1:p.Gly768Glu
XM_005267992.2:c.2297G>A	XP_005268049.1:p.Gly766Glu
XM_005267993.2:c.2243G>A	XP_005268050.1:p.Gly748Glu
XM_011537067.1:c.2333G>A	XP_011535369.1:p.Gly778Glu
XM_011537068.1:c.2324G>A	XP_011535370.1:p.Gly775Glu
XM_011537069.1:c.2294G>A	XP_011535371.1:p.Gly765Glu
XM_011537070.1:c.2237G>A	XP_011535372.1:p.Gly746Glu
XM_011537071.1:c.2204G>A	XP_011535373.1:p.Gly735Glu
XM_011537072.1:c.2183G>A	XP_011535374.1:p.Gly728Glu
XM_011537073.1:c.1976G>A	XP_011535375.1:p.Gly659Glu
XM_011537074.1:c.1976G>A	XP_011535376.1:p.Gly659Glu
XM_005267991.3:c.2390G>A	XP_005268048.2:p.Gly797Glu
XM_005267992.3:c.2384G>A	XP_005268049.2:p.Gly795Glu
XM_011537067.2:c.2333G>A	XP_011535369.1:p.Gly778Glu
XM_011537069.2:c.2381G>A	XP_011535371.2:p.Gly794Glu
XM_011537070.2:c.2237G>A	XP_011535372.1:p.Gly746Glu
XM_011537071.2:c.2291G>A	XP_011535373.2:p.Gly764Glu
XM_011537072.2:c.2183G>A	XP_011535374.1:p.Gly728Glu
XM_017021582.1:c.2441G>A	XP_016877071.1:p.Gly814Glu
XM_017021583.1:c.2432G>A	XP_016877072.1:p.Gly811Glu
XM_017021584.1:c.2351G>A	XP_016877073.1:p.Gly784Glu
XM_017021585.1:c.2300G>A	XP_016877074.1:p.Gly767Glu
XM_017021586.1:c.1976G>A	XP_016877075.1:p.Gly659Glu
XM_017021587.1:c.1976G>A	XP_016877076.1:p.Gly659Glu
XM_017021588.1:c.1976G>A	XP_016877077.1:p.Gly659Glu
NM_001164749.2:c.2282G>A MANE Select	NP_001158221.1:p.Gly761Glu
NM_001165893.2:c.2192G>A	NP_001159365.1:p.Gly731Glu
NM_022123.3:c.2186G>A	NP_071406.1:p.Gly729Glu
NM_173159.3:c.2243G>A	NP_775182.1:p.Gly748Glu
NM_001394988.1:c.2237G>A	NP_001381917.1:p.Gly746Glu
NM_001394989.1:c.2183G>A	NP_001381918.1:p.Gly728Glu