Canonical Allele Identifier: CA389413569

Gene: NPAS3

Linked Data

• MyVariant Identifiers: chr14:g.34269538G>C (hg19) ; chr14:g.33800332G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800332G>C , CM000676.2:g.33800332G>C	GRCh38
NC_000014.8:g.34269538G>C , CM000676.1:g.34269538G>C	GRCh37
NC_000014.7:g.33339289G>C	NCBI36
NG_013036.1:g.866080G>C
NG_013036.2:g.866080G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.2025G>C MANE Select	ENSP00000348460.4:p.Arg675Ser
ENST00000551634.6:c.2034G>C	ENSP00000448373.2:p.Arg678Ser
ENST00000680362.1:c.1925G>C
ENST00000681323.1:c.793+2751G>C
ENST00000346562.6:c.1929G>C	ENSP00000319610.5:p.Arg643Ser
ENST00000356141.8:c.2025G>C	ENSP00000348460.4:p.Arg675Ser
ENST00000357798.9:c.1986G>C	ENSP00000350446.5:p.Arg662Ser
ENST00000548645.5:c.1935G>C	ENSP00000448916.1:p.Arg645Ser
ENST00000551492.5:c.2040G>C	ENSP00000450392.1:p.Arg680Ser
ENST00000551634.5:c.1947G>C	ENSP00000448373.1:p.Arg649Ser
NM_001164749.1:c.2025G>C	NP_001158221.1:p.Arg675Ser
NM_001165893.1:c.1935G>C	NP_001159365.1:p.Arg645Ser
NM_022123.2:c.1929G>C	NP_071406.1:p.Arg643Ser
NM_173159.2:c.1986G>C	NP_775182.1:p.Arg662Ser
XM_005267991.2:c.2046G>C	XP_005268048.1:p.Arg682Ser
XM_005267992.2:c.2040G>C	XP_005268049.1:p.Arg680Ser
XM_005267993.2:c.1986G>C	XP_005268050.1:p.Arg662Ser
XM_011537067.1:c.2076G>C	XP_011535369.1:p.Arg692Ser
XM_011537068.1:c.2067G>C	XP_011535370.1:p.Arg689Ser
XM_011537069.1:c.2037G>C	XP_011535371.1:p.Arg679Ser
XM_011537070.1:c.1980G>C	XP_011535372.1:p.Arg660Ser
XM_011537071.1:c.1947G>C	XP_011535373.1:p.Arg649Ser
XM_011537072.1:c.1926G>C	XP_011535374.1:p.Arg642Ser
XM_011537073.1:c.1719G>C	XP_011535375.1:p.Arg573Ser
XM_011537074.1:c.1719G>C	XP_011535376.1:p.Arg573Ser
XM_005267991.3:c.2133G>C	XP_005268048.2:p.Arg711Ser
XM_005267992.3:c.2127G>C	XP_005268049.2:p.Arg709Ser
XM_011537067.2:c.2076G>C	XP_011535369.1:p.Arg692Ser
XM_011537069.2:c.2124G>C	XP_011535371.2:p.Arg708Ser
XM_011537070.2:c.1980G>C	XP_011535372.1:p.Arg660Ser
XM_011537071.2:c.2034G>C	XP_011535373.2:p.Arg678Ser
XM_011537072.2:c.1926G>C	XP_011535374.1:p.Arg642Ser
XM_017021582.1:c.2184G>C	XP_016877071.1:p.Arg728Ser
XM_017021583.1:c.2175G>C	XP_016877072.1:p.Arg725Ser
XM_017021584.1:c.2094G>C	XP_016877073.1:p.Arg698Ser
XM_017021585.1:c.2043G>C	XP_016877074.1:p.Arg681Ser
XM_017021586.1:c.1719G>C	XP_016877075.1:p.Arg573Ser
XM_017021587.1:c.1719G>C	XP_016877076.1:p.Arg573Ser
XM_017021588.1:c.1719G>C	XP_016877077.1:p.Arg573Ser
NM_001164749.2:c.2025G>C MANE Select	NP_001158221.1:p.Arg675Ser
NM_001165893.2:c.1935G>C	NP_001159365.1:p.Arg645Ser
NM_022123.3:c.1929G>C	NP_071406.1:p.Arg643Ser
NM_173159.3:c.1986G>C	NP_775182.1:p.Arg662Ser
NM_001394988.1:c.1980G>C	NP_001381917.1:p.Arg660Ser
NM_001394989.1:c.1926G>C	NP_001381918.1:p.Arg642Ser