Canonical Allele Identifier: CA389412430

Gene: NPAS3

Linked Data

• MyVariant Identifiers: chr14:g.34269305C>T (hg19) ; chr14:g.33800099C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800099C>T , CM000676.2:g.33800099C>T	GRCh38
NC_000014.8:g.34269305C>T , CM000676.1:g.34269305C>T	GRCh37
NC_000014.7:g.33339056C>T	NCBI36
NG_013036.1:g.865847C>T
NG_013036.2:g.865847C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1792C>T MANE Select	ENSP00000348460.4:p.Gln598Ter
ENST00000551634.6:c.1801C>T	ENSP00000448373.2:p.Gln601Ter
ENST00000680362.1:c.1692C>T
ENST00000681323.1:c.793+2518C>T
ENST00000346562.6:c.1696C>T	ENSP00000319610.5:p.Gln566Ter
ENST00000356141.8:c.1792C>T	ENSP00000348460.4:p.Gln598Ter
ENST00000357798.9:c.1753C>T	ENSP00000350446.5:p.Gln585Ter
ENST00000548645.5:c.1702C>T	ENSP00000448916.1:p.Gln568Ter
ENST00000551492.5:c.1807C>T	ENSP00000450392.1:p.Gln603Ter
ENST00000551634.5:c.1714C>T	ENSP00000448373.1:p.Gln572Ter
NM_001164749.1:c.1792C>T	NP_001158221.1:p.Gln598Ter
NM_001165893.1:c.1702C>T	NP_001159365.1:p.Gln568Ter
NM_022123.2:c.1696C>T	NP_071406.1:p.Gln566Ter
NM_173159.2:c.1753C>T	NP_775182.1:p.Gln585Ter
XM_005267991.2:c.1813C>T	XP_005268048.1:p.Gln605Ter
XM_005267992.2:c.1807C>T	XP_005268049.1:p.Gln603Ter
XM_005267993.2:c.1753C>T	XP_005268050.1:p.Gln585Ter
XM_011537067.1:c.1843C>T	XP_011535369.1:p.Gln615Ter
XM_011537068.1:c.1834C>T	XP_011535370.1:p.Gln612Ter
XM_011537069.1:c.1804C>T	XP_011535371.1:p.Gln602Ter
XM_011537070.1:c.1747C>T	XP_011535372.1:p.Gln583Ter
XM_011537071.1:c.1714C>T	XP_011535373.1:p.Gln572Ter
XM_011537072.1:c.1693C>T	XP_011535374.1:p.Gln565Ter
XM_011537073.1:c.1486C>T	XP_011535375.1:p.Gln496Ter
XM_011537074.1:c.1486C>T	XP_011535376.1:p.Gln496Ter
XM_005267991.3:c.1900C>T	XP_005268048.2:p.Gln634Ter
XM_005267992.3:c.1894C>T	XP_005268049.2:p.Gln632Ter
XM_011537067.2:c.1843C>T	XP_011535369.1:p.Gln615Ter
XM_011537069.2:c.1891C>T	XP_011535371.2:p.Gln631Ter
XM_011537070.2:c.1747C>T	XP_011535372.1:p.Gln583Ter
XM_011537071.2:c.1801C>T	XP_011535373.2:p.Gln601Ter
XM_011537072.2:c.1693C>T	XP_011535374.1:p.Gln565Ter
XM_017021582.1:c.1951C>T	XP_016877071.1:p.Gln651Ter
XM_017021583.1:c.1942C>T	XP_016877072.1:p.Gln648Ter
XM_017021584.1:c.1861C>T	XP_016877073.1:p.Gln621Ter
XM_017021585.1:c.1810C>T	XP_016877074.1:p.Gln604Ter
XM_017021586.1:c.1486C>T	XP_016877075.1:p.Gln496Ter
XM_017021587.1:c.1486C>T	XP_016877076.1:p.Gln496Ter
XM_017021588.1:c.1486C>T	XP_016877077.1:p.Gln496Ter
NM_001164749.2:c.1792C>T MANE Select	NP_001158221.1:p.Gln598Ter
NM_001165893.2:c.1702C>T	NP_001159365.1:p.Gln568Ter
NM_022123.3:c.1696C>T	NP_071406.1:p.Gln566Ter
NM_173159.3:c.1753C>T	NP_775182.1:p.Gln585Ter
NM_001394988.1:c.1747C>T	NP_001381917.1:p.Gln583Ter
NM_001394989.1:c.1693C>T	NP_001381918.1:p.Gln565Ter