Canonical Allele Identifier: CA486093397

Gene: NPAS3

Linked Data

• gnomAD v4: 14-33800560-C-G
• MyVariant Identifiers: chr14:g.34269766C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800560C>G , CM000676.2:g.33800560C>G	GRCh38
NC_000014.8:g.34269766C>G , CM000676.1:g.34269766C>G	GRCh37
NC_000014.7:g.33339517C>G	NCBI36
NG_013036.1:g.866308C>G
NG_013036.2:g.866308C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.2253C>G MANE Select	ENSP00000348460.4:p.Leu751=
ENST00000551634.6:c.2262C>G	ENSP00000448373.2:p.Leu754=
ENST00000680362.1:c.2153C>G
ENST00000681323.1:c.793+2979C>G
ENST00000346562.6:c.2157C>G	ENSP00000319610.5:p.Leu719=
ENST00000356141.8:c.2253C>G	ENSP00000348460.4:p.Leu751=
ENST00000357798.9:c.2214C>G	ENSP00000350446.5:p.Leu738=
ENST00000548645.5:c.2163C>G	ENSP00000448916.1:p.Leu721=
ENST00000551492.5:c.2268C>G	ENSP00000450392.1:p.Leu756=
ENST00000551634.5:c.2175C>G	ENSP00000448373.1:p.Leu725=
NM_001164749.1:c.2253C>G	NP_001158221.1:p.Leu751=
NM_001165893.1:c.2163C>G	NP_001159365.1:p.Leu721=
NM_022123.2:c.2157C>G	NP_071406.1:p.Leu719=
NM_173159.2:c.2214C>G	NP_775182.1:p.Leu738=
XM_005267991.2:c.2274C>G	XP_005268048.1:p.Leu758=
XM_005267992.2:c.2268C>G	XP_005268049.1:p.Leu756=
XM_005267993.2:c.2214C>G	XP_005268050.1:p.Leu738=
XM_011537067.1:c.2304C>G	XP_011535369.1:p.Leu768=
XM_011537068.1:c.2295C>G	XP_011535370.1:p.Leu765=
XM_011537069.1:c.2265C>G	XP_011535371.1:p.Leu755=
XM_011537070.1:c.2208C>G	XP_011535372.1:p.Leu736=
XM_011537071.1:c.2175C>G	XP_011535373.1:p.Leu725=
XM_011537072.1:c.2154C>G	XP_011535374.1:p.Leu718=
XM_011537073.1:c.1947C>G	XP_011535375.1:p.Leu649=
XM_011537074.1:c.1947C>G	XP_011535376.1:p.Leu649=
XM_005267991.3:c.2361C>G	XP_005268048.2:p.Leu787=
XM_005267992.3:c.2355C>G	XP_005268049.2:p.Leu785=
XM_011537067.2:c.2304C>G	XP_011535369.1:p.Leu768=
XM_011537069.2:c.2352C>G	XP_011535371.2:p.Leu784=
XM_011537070.2:c.2208C>G	XP_011535372.1:p.Leu736=
XM_011537071.2:c.2262C>G	XP_011535373.2:p.Leu754=
XM_011537072.2:c.2154C>G	XP_011535374.1:p.Leu718=
XM_017021582.1:c.2412C>G	XP_016877071.1:p.Leu804=
XM_017021583.1:c.2403C>G	XP_016877072.1:p.Leu801=
XM_017021584.1:c.2322C>G	XP_016877073.1:p.Leu774=
XM_017021585.1:c.2271C>G	XP_016877074.1:p.Leu757=
XM_017021586.1:c.1947C>G	XP_016877075.1:p.Leu649=
XM_017021587.1:c.1947C>G	XP_016877076.1:p.Leu649=
XM_017021588.1:c.1947C>G	XP_016877077.1:p.Leu649=
NM_001164749.2:c.2253C>G MANE Select	NP_001158221.1:p.Leu751=
NM_001165893.2:c.2163C>G	NP_001159365.1:p.Leu721=
NM_022123.3:c.2157C>G	NP_071406.1:p.Leu719=
NM_173159.3:c.2214C>G	NP_775182.1:p.Leu738=
NM_001394988.1:c.2208C>G	NP_001381917.1:p.Leu736=
NM_001394989.1:c.2154C>G	NP_001381918.1:p.Leu718=