Canonical Allele Identifier: CA389414122

Gene: NPAS3

Linked Data

• gnomAD v4: 14-33800475-G-T
• MyVariant Identifiers: chr14:g.34269681G>T (hg19) ; chr14:g.33800475G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800475G>T , CM000676.2:g.33800475G>T	GRCh38
NC_000014.8:g.34269681G>T , CM000676.1:g.34269681G>T	GRCh37
NC_000014.7:g.33339432G>T	NCBI36
NG_013036.1:g.866223G>T
NG_013036.2:g.866223G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.2168G>T MANE Select	ENSP00000348460.4:p.Gly723Val
ENST00000551634.6:c.2177G>T	ENSP00000448373.2:p.Gly726Val
ENST00000680362.1:c.2068G>T
ENST00000681323.1:c.793+2894G>T
ENST00000346562.6:c.2072G>T	ENSP00000319610.5:p.Gly691Val
ENST00000356141.8:c.2168G>T	ENSP00000348460.4:p.Gly723Val
ENST00000357798.9:c.2129G>T	ENSP00000350446.5:p.Gly710Val
ENST00000548645.5:c.2078G>T	ENSP00000448916.1:p.Gly693Val
ENST00000551492.5:c.2183G>T	ENSP00000450392.1:p.Gly728Val
ENST00000551634.5:c.2090G>T	ENSP00000448373.1:p.Gly697Val
NM_001164749.1:c.2168G>T	NP_001158221.1:p.Gly723Val
NM_001165893.1:c.2078G>T	NP_001159365.1:p.Gly693Val
NM_022123.2:c.2072G>T	NP_071406.1:p.Gly691Val
NM_173159.2:c.2129G>T	NP_775182.1:p.Gly710Val
XM_005267991.2:c.2189G>T	XP_005268048.1:p.Gly730Val
XM_005267992.2:c.2183G>T	XP_005268049.1:p.Gly728Val
XM_005267993.2:c.2129G>T	XP_005268050.1:p.Gly710Val
XM_011537067.1:c.2219G>T	XP_011535369.1:p.Gly740Val
XM_011537068.1:c.2210G>T	XP_011535370.1:p.Gly737Val
XM_011537069.1:c.2180G>T	XP_011535371.1:p.Gly727Val
XM_011537070.1:c.2123G>T	XP_011535372.1:p.Gly708Val
XM_011537071.1:c.2090G>T	XP_011535373.1:p.Gly697Val
XM_011537072.1:c.2069G>T	XP_011535374.1:p.Gly690Val
XM_011537073.1:c.1862G>T	XP_011535375.1:p.Gly621Val
XM_011537074.1:c.1862G>T	XP_011535376.1:p.Gly621Val
XM_005267991.3:c.2276G>T	XP_005268048.2:p.Gly759Val
XM_005267992.3:c.2270G>T	XP_005268049.2:p.Gly757Val
XM_011537067.2:c.2219G>T	XP_011535369.1:p.Gly740Val
XM_011537069.2:c.2267G>T	XP_011535371.2:p.Gly756Val
XM_011537070.2:c.2123G>T	XP_011535372.1:p.Gly708Val
XM_011537071.2:c.2177G>T	XP_011535373.2:p.Gly726Val
XM_011537072.2:c.2069G>T	XP_011535374.1:p.Gly690Val
XM_017021582.1:c.2327G>T	XP_016877071.1:p.Gly776Val
XM_017021583.1:c.2318G>T	XP_016877072.1:p.Gly773Val
XM_017021584.1:c.2237G>T	XP_016877073.1:p.Gly746Val
XM_017021585.1:c.2186G>T	XP_016877074.1:p.Gly729Val
XM_017021586.1:c.1862G>T	XP_016877075.1:p.Gly621Val
XM_017021587.1:c.1862G>T	XP_016877076.1:p.Gly621Val
XM_017021588.1:c.1862G>T	XP_016877077.1:p.Gly621Val
NM_001164749.2:c.2168G>T MANE Select	NP_001158221.1:p.Gly723Val
NM_001165893.2:c.2078G>T	NP_001159365.1:p.Gly693Val
NM_022123.3:c.2072G>T	NP_071406.1:p.Gly691Val
NM_173159.3:c.2129G>T	NP_775182.1:p.Gly710Val
NM_001394988.1:c.2123G>T	NP_001381917.1:p.Gly708Val
NM_001394989.1:c.2069G>T	NP_001381918.1:p.Gly690Val