Canonical Allele Identifier: CA389413642

Gene: NPAS3

Linked Data

• gnomAD v4: 14-33800347-C-G
• MyVariant Identifiers: chr14:g.34269553C>G (hg19) ; chr14:g.33800347C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800347C>G , CM000676.2:g.33800347C>G	GRCh38
NC_000014.8:g.34269553C>G , CM000676.1:g.34269553C>G	GRCh37
NC_000014.7:g.33339304C>G	NCBI36
NG_013036.1:g.866095C>G
NG_013036.2:g.866095C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.2040C>G MANE Select	ENSP00000348460.4:p.Tyr680Ter
ENST00000551634.6:c.2049C>G	ENSP00000448373.2:p.Tyr683Ter
ENST00000680362.1:c.1940C>G
ENST00000681323.1:c.793+2766C>G
ENST00000346562.6:c.1944C>G	ENSP00000319610.5:p.Tyr648Ter
ENST00000356141.8:c.2040C>G	ENSP00000348460.4:p.Tyr680Ter
ENST00000357798.9:c.2001C>G	ENSP00000350446.5:p.Tyr667Ter
ENST00000548645.5:c.1950C>G	ENSP00000448916.1:p.Tyr650Ter
ENST00000551492.5:c.2055C>G	ENSP00000450392.1:p.Tyr685Ter
ENST00000551634.5:c.1962C>G	ENSP00000448373.1:p.Tyr654Ter
NM_001164749.1:c.2040C>G	NP_001158221.1:p.Tyr680Ter
NM_001165893.1:c.1950C>G	NP_001159365.1:p.Tyr650Ter
NM_022123.2:c.1944C>G	NP_071406.1:p.Tyr648Ter
NM_173159.2:c.2001C>G	NP_775182.1:p.Tyr667Ter
XM_005267991.2:c.2061C>G	XP_005268048.1:p.Tyr687Ter
XM_005267992.2:c.2055C>G	XP_005268049.1:p.Tyr685Ter
XM_005267993.2:c.2001C>G	XP_005268050.1:p.Tyr667Ter
XM_011537067.1:c.2091C>G	XP_011535369.1:p.Tyr697Ter
XM_011537068.1:c.2082C>G	XP_011535370.1:p.Tyr694Ter
XM_011537069.1:c.2052C>G	XP_011535371.1:p.Tyr684Ter
XM_011537070.1:c.1995C>G	XP_011535372.1:p.Tyr665Ter
XM_011537071.1:c.1962C>G	XP_011535373.1:p.Tyr654Ter
XM_011537072.1:c.1941C>G	XP_011535374.1:p.Tyr647Ter
XM_011537073.1:c.1734C>G	XP_011535375.1:p.Tyr578Ter
XM_011537074.1:c.1734C>G	XP_011535376.1:p.Tyr578Ter
XM_005267991.3:c.2148C>G	XP_005268048.2:p.Tyr716Ter
XM_005267992.3:c.2142C>G	XP_005268049.2:p.Tyr714Ter
XM_011537067.2:c.2091C>G	XP_011535369.1:p.Tyr697Ter
XM_011537069.2:c.2139C>G	XP_011535371.2:p.Tyr713Ter
XM_011537070.2:c.1995C>G	XP_011535372.1:p.Tyr665Ter
XM_011537071.2:c.2049C>G	XP_011535373.2:p.Tyr683Ter
XM_011537072.2:c.1941C>G	XP_011535374.1:p.Tyr647Ter
XM_017021582.1:c.2199C>G	XP_016877071.1:p.Tyr733Ter
XM_017021583.1:c.2190C>G	XP_016877072.1:p.Tyr730Ter
XM_017021584.1:c.2109C>G	XP_016877073.1:p.Tyr703Ter
XM_017021585.1:c.2058C>G	XP_016877074.1:p.Tyr686Ter
XM_017021586.1:c.1734C>G	XP_016877075.1:p.Tyr578Ter
XM_017021587.1:c.1734C>G	XP_016877076.1:p.Tyr578Ter
XM_017021588.1:c.1734C>G	XP_016877077.1:p.Tyr578Ter
NM_001164749.2:c.2040C>G MANE Select	NP_001158221.1:p.Tyr680Ter
NM_001165893.2:c.1950C>G	NP_001159365.1:p.Tyr650Ter
NM_022123.3:c.1944C>G	NP_071406.1:p.Tyr648Ter
NM_173159.3:c.2001C>G	NP_775182.1:p.Tyr667Ter
NM_001394988.1:c.1995C>G	NP_001381917.1:p.Tyr665Ter
NM_001394989.1:c.1941C>G	NP_001381918.1:p.Tyr647Ter