Canonical Allele Identifier: CA389413169

Gene: NPAS3

Linked Data

• MyVariant Identifiers: chr14:g.34269447T>C (hg19) ; chr14:g.33800241T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800241T>C , CM000676.2:g.33800241T>C	GRCh38
NC_000014.8:g.34269447T>C , CM000676.1:g.34269447T>C	GRCh37
NC_000014.7:g.33339198T>C	NCBI36
NG_013036.1:g.865989T>C
NG_013036.2:g.865989T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1934T>C MANE Select	ENSP00000348460.4:p.Val645Ala
ENST00000551634.6:c.1943T>C	ENSP00000448373.2:p.Val648Ala
ENST00000680362.1:c.1834T>C
ENST00000681323.1:c.793+2660T>C
ENST00000346562.6:c.1838T>C	ENSP00000319610.5:p.Val613Ala
ENST00000356141.8:c.1934T>C	ENSP00000348460.4:p.Val645Ala
ENST00000357798.9:c.1895T>C	ENSP00000350446.5:p.Val632Ala
ENST00000548645.5:c.1844T>C	ENSP00000448916.1:p.Val615Ala
ENST00000551492.5:c.1949T>C	ENSP00000450392.1:p.Val650Ala
ENST00000551634.5:c.1856T>C	ENSP00000448373.1:p.Val619Ala
NM_001164749.1:c.1934T>C	NP_001158221.1:p.Val645Ala
NM_001165893.1:c.1844T>C	NP_001159365.1:p.Val615Ala
NM_022123.2:c.1838T>C	NP_071406.1:p.Val613Ala
NM_173159.2:c.1895T>C	NP_775182.1:p.Val632Ala
XM_005267991.2:c.1955T>C	XP_005268048.1:p.Val652Ala
XM_005267992.2:c.1949T>C	XP_005268049.1:p.Val650Ala
XM_005267993.2:c.1895T>C	XP_005268050.1:p.Val632Ala
XM_011537067.1:c.1985T>C	XP_011535369.1:p.Val662Ala
XM_011537068.1:c.1976T>C	XP_011535370.1:p.Val659Ala
XM_011537069.1:c.1946T>C	XP_011535371.1:p.Val649Ala
XM_011537070.1:c.1889T>C	XP_011535372.1:p.Val630Ala
XM_011537071.1:c.1856T>C	XP_011535373.1:p.Val619Ala
XM_011537072.1:c.1835T>C	XP_011535374.1:p.Val612Ala
XM_011537073.1:c.1628T>C	XP_011535375.1:p.Val543Ala
XM_011537074.1:c.1628T>C	XP_011535376.1:p.Val543Ala
XM_005267991.3:c.2042T>C	XP_005268048.2:p.Val681Ala
XM_005267992.3:c.2036T>C	XP_005268049.2:p.Val679Ala
XM_011537067.2:c.1985T>C	XP_011535369.1:p.Val662Ala
XM_011537069.2:c.2033T>C	XP_011535371.2:p.Val678Ala
XM_011537070.2:c.1889T>C	XP_011535372.1:p.Val630Ala
XM_011537071.2:c.1943T>C	XP_011535373.2:p.Val648Ala
XM_011537072.2:c.1835T>C	XP_011535374.1:p.Val612Ala
XM_017021582.1:c.2093T>C	XP_016877071.1:p.Val698Ala
XM_017021583.1:c.2084T>C	XP_016877072.1:p.Val695Ala
XM_017021584.1:c.2003T>C	XP_016877073.1:p.Val668Ala
XM_017021585.1:c.1952T>C	XP_016877074.1:p.Val651Ala
XM_017021586.1:c.1628T>C	XP_016877075.1:p.Val543Ala
XM_017021587.1:c.1628T>C	XP_016877076.1:p.Val543Ala
XM_017021588.1:c.1628T>C	XP_016877077.1:p.Val543Ala
NM_001164749.2:c.1934T>C MANE Select	NP_001158221.1:p.Val645Ala
NM_001165893.2:c.1844T>C	NP_001159365.1:p.Val615Ala
NM_022123.3:c.1838T>C	NP_071406.1:p.Val613Ala
NM_173159.3:c.1895T>C	NP_775182.1:p.Val632Ala
NM_001394988.1:c.1889T>C	NP_001381917.1:p.Val630Ala
NM_001394989.1:c.1835T>C	NP_001381918.1:p.Val612Ala