Canonical Allele Identifier: CA389412215

Gene: NPAS3

Linked Data

• MyVariant Identifiers: chr14:g.34269269G>C (hg19) ; chr14:g.33800063G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800063G>C , CM000676.2:g.33800063G>C	GRCh38
NC_000014.8:g.34269269G>C , CM000676.1:g.34269269G>C	GRCh37
NC_000014.7:g.33339020G>C	NCBI36
NG_013036.1:g.865811G>C
NG_013036.2:g.865811G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1756G>C MANE Select	ENSP00000348460.4:p.Ala586Pro
ENST00000551634.6:c.1765G>C	ENSP00000448373.2:p.Ala589Pro
ENST00000680362.1:c.1656G>C
ENST00000681323.1:c.793+2482G>C
ENST00000346562.6:c.1660G>C	ENSP00000319610.5:p.Ala554Pro
ENST00000356141.8:c.1756G>C	ENSP00000348460.4:p.Ala586Pro
ENST00000357798.9:c.1717G>C	ENSP00000350446.5:p.Ala573Pro
ENST00000548645.5:c.1666G>C	ENSP00000448916.1:p.Ala556Pro
ENST00000551492.5:c.1771G>C	ENSP00000450392.1:p.Ala591Pro
ENST00000551634.5:c.1678G>C	ENSP00000448373.1:p.Ala560Pro
NM_001164749.1:c.1756G>C	NP_001158221.1:p.Ala586Pro
NM_001165893.1:c.1666G>C	NP_001159365.1:p.Ala556Pro
NM_022123.2:c.1660G>C	NP_071406.1:p.Ala554Pro
NM_173159.2:c.1717G>C	NP_775182.1:p.Ala573Pro
XM_005267991.2:c.1777G>C	XP_005268048.1:p.Ala593Pro
XM_005267992.2:c.1771G>C	XP_005268049.1:p.Ala591Pro
XM_005267993.2:c.1717G>C	XP_005268050.1:p.Ala573Pro
XM_011537067.1:c.1807G>C	XP_011535369.1:p.Ala603Pro
XM_011537068.1:c.1798G>C	XP_011535370.1:p.Ala600Pro
XM_011537069.1:c.1768G>C	XP_011535371.1:p.Ala590Pro
XM_011537070.1:c.1711G>C	XP_011535372.1:p.Ala571Pro
XM_011537071.1:c.1678G>C	XP_011535373.1:p.Ala560Pro
XM_011537072.1:c.1657G>C	XP_011535374.1:p.Ala553Pro
XM_011537073.1:c.1450G>C	XP_011535375.1:p.Ala484Pro
XM_011537074.1:c.1450G>C	XP_011535376.1:p.Ala484Pro
XM_005267991.3:c.1864G>C	XP_005268048.2:p.Ala622Pro
XM_005267992.3:c.1858G>C	XP_005268049.2:p.Ala620Pro
XM_011537067.2:c.1807G>C	XP_011535369.1:p.Ala603Pro
XM_011537069.2:c.1855G>C	XP_011535371.2:p.Ala619Pro
XM_011537070.2:c.1711G>C	XP_011535372.1:p.Ala571Pro
XM_011537071.2:c.1765G>C	XP_011535373.2:p.Ala589Pro
XM_011537072.2:c.1657G>C	XP_011535374.1:p.Ala553Pro
XM_017021582.1:c.1915G>C	XP_016877071.1:p.Ala639Pro
XM_017021583.1:c.1906G>C	XP_016877072.1:p.Ala636Pro
XM_017021584.1:c.1825G>C	XP_016877073.1:p.Ala609Pro
XM_017021585.1:c.1774G>C	XP_016877074.1:p.Ala592Pro
XM_017021586.1:c.1450G>C	XP_016877075.1:p.Ala484Pro
XM_017021587.1:c.1450G>C	XP_016877076.1:p.Ala484Pro
XM_017021588.1:c.1450G>C	XP_016877077.1:p.Ala484Pro
NM_001164749.2:c.1756G>C MANE Select	NP_001158221.1:p.Ala586Pro
NM_001165893.2:c.1666G>C	NP_001159365.1:p.Ala556Pro
NM_022123.3:c.1660G>C	NP_071406.1:p.Ala554Pro
NM_173159.3:c.1717G>C	NP_775182.1:p.Ala573Pro
NM_001394988.1:c.1711G>C	NP_001381917.1:p.Ala571Pro
NM_001394989.1:c.1657G>C	NP_001381918.1:p.Ala553Pro