Canonical Allele Identifier: CA389414039

Gene: NPAS3

Linked Data

• gnomAD v4: 14-33800439-T-G
• MyVariant Identifiers: chr14:g.34269645T>G (hg19) ; chr14:g.33800439T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800439T>G , CM000676.2:g.33800439T>G	GRCh38
NC_000014.8:g.34269645T>G , CM000676.1:g.34269645T>G	GRCh37
NC_000014.7:g.33339396T>G	NCBI36
NG_013036.1:g.866187T>G
NG_013036.2:g.866187T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000356141.9:c.2132T>G MANE Select	ENSP00000348460.4:p.Ile711Ser
ENST00000551634.6:c.2141T>G	ENSP00000448373.2:p.Ile714Ser
ENST00000680362.1:c.2032T>G
ENST00000681323.1:c.793+2858T>G
ENST00000346562.6:c.2036T>G	ENSP00000319610.5:p.Ile679Ser
ENST00000356141.8:c.2132T>G	ENSP00000348460.4:p.Ile711Ser
ENST00000357798.9:c.2093T>G	ENSP00000350446.5:p.Ile698Ser
ENST00000548645.5:c.2042T>G	ENSP00000448916.1:p.Ile681Ser
ENST00000551492.5:c.2147T>G	ENSP00000450392.1:p.Ile716Ser
ENST00000551634.5:c.2054T>G	ENSP00000448373.1:p.Ile685Ser
NM_001164749.1:c.2132T>G	NP_001158221.1:p.Ile711Ser
NM_001165893.1:c.2042T>G	NP_001159365.1:p.Ile681Ser
NM_022123.2:c.2036T>G	NP_071406.1:p.Ile679Ser
NM_173159.2:c.2093T>G	NP_775182.1:p.Ile698Ser
XM_005267991.2:c.2153T>G	XP_005268048.1:p.Ile718Ser
XM_005267992.2:c.2147T>G	XP_005268049.1:p.Ile716Ser
XM_005267993.2:c.2093T>G	XP_005268050.1:p.Ile698Ser
XM_011537067.1:c.2183T>G	XP_011535369.1:p.Ile728Ser
XM_011537068.1:c.2174T>G	XP_011535370.1:p.Ile725Ser
XM_011537069.1:c.2144T>G	XP_011535371.1:p.Ile715Ser
XM_011537070.1:c.2087T>G	XP_011535372.1:p.Ile696Ser
XM_011537071.1:c.2054T>G	XP_011535373.1:p.Ile685Ser
XM_011537072.1:c.2033T>G	XP_011535374.1:p.Ile678Ser
XM_011537073.1:c.1826T>G	XP_011535375.1:p.Ile609Ser
XM_011537074.1:c.1826T>G	XP_011535376.1:p.Ile609Ser
XM_005267991.3:c.2240T>G	XP_005268048.2:p.Ile747Ser
XM_005267992.3:c.2234T>G	XP_005268049.2:p.Ile745Ser
XM_011537067.2:c.2183T>G	XP_011535369.1:p.Ile728Ser
XM_011537069.2:c.2231T>G	XP_011535371.2:p.Ile744Ser
XM_011537070.2:c.2087T>G	XP_011535372.1:p.Ile696Ser
XM_011537071.2:c.2141T>G	XP_011535373.2:p.Ile714Ser
XM_011537072.2:c.2033T>G	XP_011535374.1:p.Ile678Ser
XM_017021582.1:c.2291T>G	XP_016877071.1:p.Ile764Ser
XM_017021583.1:c.2282T>G	XP_016877072.1:p.Ile761Ser
XM_017021584.1:c.2201T>G	XP_016877073.1:p.Ile734Ser
XM_017021585.1:c.2150T>G	XP_016877074.1:p.Ile717Ser
XM_017021586.1:c.1826T>G	XP_016877075.1:p.Ile609Ser
XM_017021587.1:c.1826T>G	XP_016877076.1:p.Ile609Ser
XM_017021588.1:c.1826T>G	XP_016877077.1:p.Ile609Ser
NM_001164749.2:c.2132T>G MANE Select	NP_001158221.1:p.Ile711Ser
NM_001165893.2:c.2042T>G	NP_001159365.1:p.Ile681Ser
NM_022123.3:c.2036T>G	NP_071406.1:p.Ile679Ser
NM_173159.3:c.2093T>G	NP_775182.1:p.Ile698Ser
NM_001394988.1:c.2087T>G	NP_001381917.1:p.Ile696Ser
NM_001394989.1:c.2033T>G	NP_001381918.1:p.Ile678Ser