Canonical Allele Identifier: CA389413134

Gene: NPAS3

Linked Data

• MyVariant Identifiers: chr14:g.34269440G>T (hg19) ; chr14:g.33800234G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800234G>T , CM000676.2:g.33800234G>T	GRCh38
NC_000014.8:g.34269440G>T , CM000676.1:g.34269440G>T	GRCh37
NC_000014.7:g.33339191G>T	NCBI36
NG_013036.1:g.865982G>T
NG_013036.2:g.865982G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1927G>T MANE Select	ENSP00000348460.4:p.Ala643Ser
ENST00000551634.6:c.1936G>T	ENSP00000448373.2:p.Ala646Ser
ENST00000680362.1:c.1827G>T
ENST00000681323.1:c.793+2653G>T
ENST00000346562.6:c.1831G>T	ENSP00000319610.5:p.Ala611Ser
ENST00000356141.8:c.1927G>T	ENSP00000348460.4:p.Ala643Ser
ENST00000357798.9:c.1888G>T	ENSP00000350446.5:p.Ala630Ser
ENST00000548645.5:c.1837G>T	ENSP00000448916.1:p.Ala613Ser
ENST00000551492.5:c.1942G>T	ENSP00000450392.1:p.Ala648Ser
ENST00000551634.5:c.1849G>T	ENSP00000448373.1:p.Ala617Ser
NM_001164749.1:c.1927G>T	NP_001158221.1:p.Ala643Ser
NM_001165893.1:c.1837G>T	NP_001159365.1:p.Ala613Ser
NM_022123.2:c.1831G>T	NP_071406.1:p.Ala611Ser
NM_173159.2:c.1888G>T	NP_775182.1:p.Ala630Ser
XM_005267991.2:c.1948G>T	XP_005268048.1:p.Ala650Ser
XM_005267992.2:c.1942G>T	XP_005268049.1:p.Ala648Ser
XM_005267993.2:c.1888G>T	XP_005268050.1:p.Ala630Ser
XM_011537067.1:c.1978G>T	XP_011535369.1:p.Ala660Ser
XM_011537068.1:c.1969G>T	XP_011535370.1:p.Ala657Ser
XM_011537069.1:c.1939G>T	XP_011535371.1:p.Ala647Ser
XM_011537070.1:c.1882G>T	XP_011535372.1:p.Ala628Ser
XM_011537071.1:c.1849G>T	XP_011535373.1:p.Ala617Ser
XM_011537072.1:c.1828G>T	XP_011535374.1:p.Ala610Ser
XM_011537073.1:c.1621G>T	XP_011535375.1:p.Ala541Ser
XM_011537074.1:c.1621G>T	XP_011535376.1:p.Ala541Ser
XM_005267991.3:c.2035G>T	XP_005268048.2:p.Ala679Ser
XM_005267992.3:c.2029G>T	XP_005268049.2:p.Ala677Ser
XM_011537067.2:c.1978G>T	XP_011535369.1:p.Ala660Ser
XM_011537069.2:c.2026G>T	XP_011535371.2:p.Ala676Ser
XM_011537070.2:c.1882G>T	XP_011535372.1:p.Ala628Ser
XM_011537071.2:c.1936G>T	XP_011535373.2:p.Ala646Ser
XM_011537072.2:c.1828G>T	XP_011535374.1:p.Ala610Ser
XM_017021582.1:c.2086G>T	XP_016877071.1:p.Ala696Ser
XM_017021583.1:c.2077G>T	XP_016877072.1:p.Ala693Ser
XM_017021584.1:c.1996G>T	XP_016877073.1:p.Ala666Ser
XM_017021585.1:c.1945G>T	XP_016877074.1:p.Ala649Ser
XM_017021586.1:c.1621G>T	XP_016877075.1:p.Ala541Ser
XM_017021587.1:c.1621G>T	XP_016877076.1:p.Ala541Ser
XM_017021588.1:c.1621G>T	XP_016877077.1:p.Ala541Ser
NM_001164749.2:c.1927G>T MANE Select	NP_001158221.1:p.Ala643Ser
NM_001165893.2:c.1837G>T	NP_001159365.1:p.Ala613Ser
NM_022123.3:c.1831G>T	NP_071406.1:p.Ala611Ser
NM_173159.3:c.1888G>T	NP_775182.1:p.Ala630Ser
NM_001394988.1:c.1882G>T	NP_001381917.1:p.Ala628Ser
NM_001394989.1:c.1828G>T	NP_001381918.1:p.Ala610Ser