Canonical Allele Identifier: CA389413706

Gene: NPAS3

Linked Data

• dbSNP Id: rs764818362
• gnomAD v4: 14-33800360-C-T
• MyVariant Identifiers: chr14:g.34269566C>T (hg19) ; chr14:g.33800360C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800360C>T , CM000676.2:g.33800360C>T	GRCh38
NC_000014.8:g.34269566C>T , CM000676.1:g.34269566C>T	GRCh37
NC_000014.7:g.33339317C>T	NCBI36
NG_013036.1:g.866108C>T
NG_013036.2:g.866108C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.2053C>T MANE Select	ENSP00000348460.4:p.Pro685Ser
ENST00000551634.6:c.2062C>T	ENSP00000448373.2:p.Pro688Ser
ENST00000680362.1:c.1953C>T
ENST00000681323.1:c.793+2779C>T
ENST00000346562.6:c.1957C>T	ENSP00000319610.5:p.Pro653Ser
ENST00000356141.8:c.2053C>T	ENSP00000348460.4:p.Pro685Ser
ENST00000357798.9:c.2014C>T	ENSP00000350446.5:p.Pro672Ser
ENST00000548645.5:c.1963C>T	ENSP00000448916.1:p.Pro655Ser
ENST00000551492.5:c.2068C>T	ENSP00000450392.1:p.Pro690Ser
ENST00000551634.5:c.1975C>T	ENSP00000448373.1:p.Pro659Ser
NM_001164749.1:c.2053C>T	NP_001158221.1:p.Pro685Ser
NM_001165893.1:c.1963C>T	NP_001159365.1:p.Pro655Ser
NM_022123.2:c.1957C>T	NP_071406.1:p.Pro653Ser
NM_173159.2:c.2014C>T	NP_775182.1:p.Pro672Ser
XM_005267991.2:c.2074C>T	XP_005268048.1:p.Pro692Ser
XM_005267992.2:c.2068C>T	XP_005268049.1:p.Pro690Ser
XM_005267993.2:c.2014C>T	XP_005268050.1:p.Pro672Ser
XM_011537067.1:c.2104C>T	XP_011535369.1:p.Pro702Ser
XM_011537068.1:c.2095C>T	XP_011535370.1:p.Pro699Ser
XM_011537069.1:c.2065C>T	XP_011535371.1:p.Pro689Ser
XM_011537070.1:c.2008C>T	XP_011535372.1:p.Pro670Ser
XM_011537071.1:c.1975C>T	XP_011535373.1:p.Pro659Ser
XM_011537072.1:c.1954C>T	XP_011535374.1:p.Pro652Ser
XM_011537073.1:c.1747C>T	XP_011535375.1:p.Pro583Ser
XM_011537074.1:c.1747C>T	XP_011535376.1:p.Pro583Ser
XM_005267991.3:c.2161C>T	XP_005268048.2:p.Pro721Ser
XM_005267992.3:c.2155C>T	XP_005268049.2:p.Pro719Ser
XM_011537067.2:c.2104C>T	XP_011535369.1:p.Pro702Ser
XM_011537069.2:c.2152C>T	XP_011535371.2:p.Pro718Ser
XM_011537070.2:c.2008C>T	XP_011535372.1:p.Pro670Ser
XM_011537071.2:c.2062C>T	XP_011535373.2:p.Pro688Ser
XM_011537072.2:c.1954C>T	XP_011535374.1:p.Pro652Ser
XM_017021582.1:c.2212C>T	XP_016877071.1:p.Pro738Ser
XM_017021583.1:c.2203C>T	XP_016877072.1:p.Pro735Ser
XM_017021584.1:c.2122C>T	XP_016877073.1:p.Pro708Ser
XM_017021585.1:c.2071C>T	XP_016877074.1:p.Pro691Ser
XM_017021586.1:c.1747C>T	XP_016877075.1:p.Pro583Ser
XM_017021587.1:c.1747C>T	XP_016877076.1:p.Pro583Ser
XM_017021588.1:c.1747C>T	XP_016877077.1:p.Pro583Ser
NM_001164749.2:c.2053C>T MANE Select	NP_001158221.1:p.Pro685Ser
NM_001165893.2:c.1963C>T	NP_001159365.1:p.Pro655Ser
NM_022123.3:c.1957C>T	NP_071406.1:p.Pro653Ser
NM_173159.3:c.2014C>T	NP_775182.1:p.Pro672Ser
NM_001394988.1:c.2008C>T	NP_001381917.1:p.Pro670Ser
NM_001394989.1:c.1954C>T	NP_001381918.1:p.Pro652Ser