Canonical Allele Identifier: CA389414339

Gene: NPAS3

Linked Data

• gnomAD v4: 14-33800582-C-T
• MyVariant Identifiers: chr14:g.34269788C>T (hg19) ; chr14:g.33800582C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800582C>T , CM000676.2:g.33800582C>T	GRCh38
NC_000014.8:g.34269788C>T , CM000676.1:g.34269788C>T	GRCh37
NC_000014.7:g.33339539C>T	NCBI36
NG_013036.1:g.866330C>T
NG_013036.2:g.866330C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.2275C>T MANE Select	ENSP00000348460.4:p.His759Tyr
ENST00000551634.6:c.2284C>T	ENSP00000448373.2:p.His762Tyr
ENST00000680362.1:c.2175C>T
ENST00000681323.1:c.793+3001C>T
ENST00000346562.6:c.2179C>T	ENSP00000319610.5:p.His727Tyr
ENST00000356141.8:c.2275C>T	ENSP00000348460.4:p.His759Tyr
ENST00000357798.9:c.2236C>T	ENSP00000350446.5:p.His746Tyr
ENST00000548645.5:c.2185C>T	ENSP00000448916.1:p.His729Tyr
ENST00000551492.5:c.2290C>T	ENSP00000450392.1:p.His764Tyr
ENST00000551634.5:c.2197C>T	ENSP00000448373.1:p.His733Tyr
NM_001164749.1:c.2275C>T	NP_001158221.1:p.His759Tyr
NM_001165893.1:c.2185C>T	NP_001159365.1:p.His729Tyr
NM_022123.2:c.2179C>T	NP_071406.1:p.His727Tyr
NM_173159.2:c.2236C>T	NP_775182.1:p.His746Tyr
XM_005267991.2:c.2296C>T	XP_005268048.1:p.His766Tyr
XM_005267992.2:c.2290C>T	XP_005268049.1:p.His764Tyr
XM_005267993.2:c.2236C>T	XP_005268050.1:p.His746Tyr
XM_011537067.1:c.2326C>T	XP_011535369.1:p.His776Tyr
XM_011537068.1:c.2317C>T	XP_011535370.1:p.His773Tyr
XM_011537069.1:c.2287C>T	XP_011535371.1:p.His763Tyr
XM_011537070.1:c.2230C>T	XP_011535372.1:p.His744Tyr
XM_011537071.1:c.2197C>T	XP_011535373.1:p.His733Tyr
XM_011537072.1:c.2176C>T	XP_011535374.1:p.His726Tyr
XM_011537073.1:c.1969C>T	XP_011535375.1:p.His657Tyr
XM_011537074.1:c.1969C>T	XP_011535376.1:p.His657Tyr
XM_005267991.3:c.2383C>T	XP_005268048.2:p.His795Tyr
XM_005267992.3:c.2377C>T	XP_005268049.2:p.His793Tyr
XM_011537067.2:c.2326C>T	XP_011535369.1:p.His776Tyr
XM_011537069.2:c.2374C>T	XP_011535371.2:p.His792Tyr
XM_011537070.2:c.2230C>T	XP_011535372.1:p.His744Tyr
XM_011537071.2:c.2284C>T	XP_011535373.2:p.His762Tyr
XM_011537072.2:c.2176C>T	XP_011535374.1:p.His726Tyr
XM_017021582.1:c.2434C>T	XP_016877071.1:p.His812Tyr
XM_017021583.1:c.2425C>T	XP_016877072.1:p.His809Tyr
XM_017021584.1:c.2344C>T	XP_016877073.1:p.His782Tyr
XM_017021585.1:c.2293C>T	XP_016877074.1:p.His765Tyr
XM_017021586.1:c.1969C>T	XP_016877075.1:p.His657Tyr
XM_017021587.1:c.1969C>T	XP_016877076.1:p.His657Tyr
XM_017021588.1:c.1969C>T	XP_016877077.1:p.His657Tyr
NM_001164749.2:c.2275C>T MANE Select	NP_001158221.1:p.His759Tyr
NM_001165893.2:c.2185C>T	NP_001159365.1:p.His729Tyr
NM_022123.3:c.2179C>T	NP_071406.1:p.His727Tyr
NM_173159.3:c.2236C>T	NP_775182.1:p.His746Tyr
NM_001394988.1:c.2230C>T	NP_001381917.1:p.His744Tyr
NM_001394989.1:c.2176C>T	NP_001381918.1:p.His726Tyr