Canonical Allele Identifier: CA389414318

Gene: NPAS3

Linked Data

• gnomAD v4: 14-33800573-C-G
• MyVariant Identifiers: chr14:g.34269779C>G (hg19) ; chr14:g.33800573C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800573C>G , CM000676.2:g.33800573C>G	GRCh38
NC_000014.8:g.34269779C>G , CM000676.1:g.34269779C>G	GRCh37
NC_000014.7:g.33339530C>G	NCBI36
NG_013036.1:g.866321C>G
NG_013036.2:g.866321C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.2266C>G MANE Select	ENSP00000348460.4:p.Arg756Gly
ENST00000551634.6:c.2275C>G	ENSP00000448373.2:p.Arg759Gly
ENST00000680362.1:c.2166C>G
ENST00000681323.1:c.793+2992C>G
ENST00000346562.6:c.2170C>G	ENSP00000319610.5:p.Arg724Gly
ENST00000356141.8:c.2266C>G	ENSP00000348460.4:p.Arg756Gly
ENST00000357798.9:c.2227C>G	ENSP00000350446.5:p.Arg743Gly
ENST00000548645.5:c.2176C>G	ENSP00000448916.1:p.Arg726Gly
ENST00000551492.5:c.2281C>G	ENSP00000450392.1:p.Arg761Gly
ENST00000551634.5:c.2188C>G	ENSP00000448373.1:p.Arg730Gly
NM_001164749.1:c.2266C>G	NP_001158221.1:p.Arg756Gly
NM_001165893.1:c.2176C>G	NP_001159365.1:p.Arg726Gly
NM_022123.2:c.2170C>G	NP_071406.1:p.Arg724Gly
NM_173159.2:c.2227C>G	NP_775182.1:p.Arg743Gly
XM_005267991.2:c.2287C>G	XP_005268048.1:p.Arg763Gly
XM_005267992.2:c.2281C>G	XP_005268049.1:p.Arg761Gly
XM_005267993.2:c.2227C>G	XP_005268050.1:p.Arg743Gly
XM_011537067.1:c.2317C>G	XP_011535369.1:p.Arg773Gly
XM_011537068.1:c.2308C>G	XP_011535370.1:p.Arg770Gly
XM_011537069.1:c.2278C>G	XP_011535371.1:p.Arg760Gly
XM_011537070.1:c.2221C>G	XP_011535372.1:p.Arg741Gly
XM_011537071.1:c.2188C>G	XP_011535373.1:p.Arg730Gly
XM_011537072.1:c.2167C>G	XP_011535374.1:p.Arg723Gly
XM_011537073.1:c.1960C>G	XP_011535375.1:p.Arg654Gly
XM_011537074.1:c.1960C>G	XP_011535376.1:p.Arg654Gly
XM_005267991.3:c.2374C>G	XP_005268048.2:p.Arg792Gly
XM_005267992.3:c.2368C>G	XP_005268049.2:p.Arg790Gly
XM_011537067.2:c.2317C>G	XP_011535369.1:p.Arg773Gly
XM_011537069.2:c.2365C>G	XP_011535371.2:p.Arg789Gly
XM_011537070.2:c.2221C>G	XP_011535372.1:p.Arg741Gly
XM_011537071.2:c.2275C>G	XP_011535373.2:p.Arg759Gly
XM_011537072.2:c.2167C>G	XP_011535374.1:p.Arg723Gly
XM_017021582.1:c.2425C>G	XP_016877071.1:p.Arg809Gly
XM_017021583.1:c.2416C>G	XP_016877072.1:p.Arg806Gly
XM_017021584.1:c.2335C>G	XP_016877073.1:p.Arg779Gly
XM_017021585.1:c.2284C>G	XP_016877074.1:p.Arg762Gly
XM_017021586.1:c.1960C>G	XP_016877075.1:p.Arg654Gly
XM_017021587.1:c.1960C>G	XP_016877076.1:p.Arg654Gly
XM_017021588.1:c.1960C>G	XP_016877077.1:p.Arg654Gly
NM_001164749.2:c.2266C>G MANE Select	NP_001158221.1:p.Arg756Gly
NM_001165893.2:c.2176C>G	NP_001159365.1:p.Arg726Gly
NM_022123.3:c.2170C>G	NP_071406.1:p.Arg724Gly
NM_173159.3:c.2227C>G	NP_775182.1:p.Arg743Gly
NM_001394988.1:c.2221C>G	NP_001381917.1:p.Arg741Gly
NM_001394989.1:c.2167C>G	NP_001381918.1:p.Arg723Gly