Canonical Allele Identifier: CA389414218

Gene: NPAS3

Linked Data

• gnomAD v4: 14-33800522-C-A
• MyVariant Identifiers: chr14:g.34269728C>A (hg19) ; chr14:g.33800522C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800522C>A , CM000676.2:g.33800522C>A	GRCh38
NC_000014.8:g.34269728C>A , CM000676.1:g.34269728C>A	GRCh37
NC_000014.7:g.33339479C>A	NCBI36
NG_013036.1:g.866270C>A
NG_013036.2:g.866270C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000356141.9:c.2215C>A MANE Select	ENSP00000348460.4:p.Leu739Met
ENST00000551634.6:c.2224C>A	ENSP00000448373.2:p.Leu742Met
ENST00000680362.1:c.2115C>A
ENST00000681323.1:c.793+2941C>A
ENST00000346562.6:c.2119C>A	ENSP00000319610.5:p.Leu707Met
ENST00000356141.8:c.2215C>A	ENSP00000348460.4:p.Leu739Met
ENST00000357798.9:c.2176C>A	ENSP00000350446.5:p.Leu726Met
ENST00000548645.5:c.2125C>A	ENSP00000448916.1:p.Leu709Met
ENST00000551492.5:c.2230C>A	ENSP00000450392.1:p.Leu744Met
ENST00000551634.5:c.2137C>A	ENSP00000448373.1:p.Leu713Met
NM_001164749.1:c.2215C>A	NP_001158221.1:p.Leu739Met
NM_001165893.1:c.2125C>A	NP_001159365.1:p.Leu709Met
NM_022123.2:c.2119C>A	NP_071406.1:p.Leu707Met
NM_173159.2:c.2176C>A	NP_775182.1:p.Leu726Met
XM_005267991.2:c.2236C>A	XP_005268048.1:p.Leu746Met
XM_005267992.2:c.2230C>A	XP_005268049.1:p.Leu744Met
XM_005267993.2:c.2176C>A	XP_005268050.1:p.Leu726Met
XM_011537067.1:c.2266C>A	XP_011535369.1:p.Leu756Met
XM_011537068.1:c.2257C>A	XP_011535370.1:p.Leu753Met
XM_011537069.1:c.2227C>A	XP_011535371.1:p.Leu743Met
XM_011537070.1:c.2170C>A	XP_011535372.1:p.Leu724Met
XM_011537071.1:c.2137C>A	XP_011535373.1:p.Leu713Met
XM_011537072.1:c.2116C>A	XP_011535374.1:p.Leu706Met
XM_011537073.1:c.1909C>A	XP_011535375.1:p.Leu637Met
XM_011537074.1:c.1909C>A	XP_011535376.1:p.Leu637Met
XM_005267991.3:c.2323C>A	XP_005268048.2:p.Leu775Met
XM_005267992.3:c.2317C>A	XP_005268049.2:p.Leu773Met
XM_011537067.2:c.2266C>A	XP_011535369.1:p.Leu756Met
XM_011537069.2:c.2314C>A	XP_011535371.2:p.Leu772Met
XM_011537070.2:c.2170C>A	XP_011535372.1:p.Leu724Met
XM_011537071.2:c.2224C>A	XP_011535373.2:p.Leu742Met
XM_011537072.2:c.2116C>A	XP_011535374.1:p.Leu706Met
XM_017021582.1:c.2374C>A	XP_016877071.1:p.Leu792Met
XM_017021583.1:c.2365C>A	XP_016877072.1:p.Leu789Met
XM_017021584.1:c.2284C>A	XP_016877073.1:p.Leu762Met
XM_017021585.1:c.2233C>A	XP_016877074.1:p.Leu745Met
XM_017021586.1:c.1909C>A	XP_016877075.1:p.Leu637Met
XM_017021587.1:c.1909C>A	XP_016877076.1:p.Leu637Met
XM_017021588.1:c.1909C>A	XP_016877077.1:p.Leu637Met
NM_001164749.2:c.2215C>A MANE Select	NP_001158221.1:p.Leu739Met
NM_001165893.2:c.2125C>A	NP_001159365.1:p.Leu709Met
NM_022123.3:c.2119C>A	NP_071406.1:p.Leu707Met
NM_173159.3:c.2176C>A	NP_775182.1:p.Leu726Met
NM_001394988.1:c.2170C>A	NP_001381917.1:p.Leu724Met
NM_001394989.1:c.2116C>A	NP_001381918.1:p.Leu706Met