Canonical Allele Identifier: CA389412976

Gene: NPAS3

Linked Data

• MyVariant Identifiers: chr14:g.34269399G>C (hg19) ; chr14:g.33800193G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800193G>C , CM000676.2:g.33800193G>C	GRCh38
NC_000014.8:g.34269399G>C , CM000676.1:g.34269399G>C	GRCh37
NC_000014.7:g.33339150G>C	NCBI36
NG_013036.1:g.865941G>C
NG_013036.2:g.865941G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1886G>C MANE Select	ENSP00000348460.4:p.Gly629Ala
ENST00000551634.6:c.1895G>C	ENSP00000448373.2:p.Gly632Ala
ENST00000680362.1:c.1786G>C
ENST00000681323.1:c.793+2612G>C
ENST00000346562.6:c.1790G>C	ENSP00000319610.5:p.Gly597Ala
ENST00000356141.8:c.1886G>C	ENSP00000348460.4:p.Gly629Ala
ENST00000357798.9:c.1847G>C	ENSP00000350446.5:p.Gly616Ala
ENST00000548645.5:c.1796G>C	ENSP00000448916.1:p.Gly599Ala
ENST00000551492.5:c.1901G>C	ENSP00000450392.1:p.Gly634Ala
ENST00000551634.5:c.1808G>C	ENSP00000448373.1:p.Gly603Ala
NM_001164749.1:c.1886G>C	NP_001158221.1:p.Gly629Ala
NM_001165893.1:c.1796G>C	NP_001159365.1:p.Gly599Ala
NM_022123.2:c.1790G>C	NP_071406.1:p.Gly597Ala
NM_173159.2:c.1847G>C	NP_775182.1:p.Gly616Ala
XM_005267991.2:c.1907G>C	XP_005268048.1:p.Gly636Ala
XM_005267992.2:c.1901G>C	XP_005268049.1:p.Gly634Ala
XM_005267993.2:c.1847G>C	XP_005268050.1:p.Gly616Ala
XM_011537067.1:c.1937G>C	XP_011535369.1:p.Gly646Ala
XM_011537068.1:c.1928G>C	XP_011535370.1:p.Gly643Ala
XM_011537069.1:c.1898G>C	XP_011535371.1:p.Gly633Ala
XM_011537070.1:c.1841G>C	XP_011535372.1:p.Gly614Ala
XM_011537071.1:c.1808G>C	XP_011535373.1:p.Gly603Ala
XM_011537072.1:c.1787G>C	XP_011535374.1:p.Gly596Ala
XM_011537073.1:c.1580G>C	XP_011535375.1:p.Gly527Ala
XM_011537074.1:c.1580G>C	XP_011535376.1:p.Gly527Ala
XM_005267991.3:c.1994G>C	XP_005268048.2:p.Gly665Ala
XM_005267992.3:c.1988G>C	XP_005268049.2:p.Gly663Ala
XM_011537067.2:c.1937G>C	XP_011535369.1:p.Gly646Ala
XM_011537069.2:c.1985G>C	XP_011535371.2:p.Gly662Ala
XM_011537070.2:c.1841G>C	XP_011535372.1:p.Gly614Ala
XM_011537071.2:c.1895G>C	XP_011535373.2:p.Gly632Ala
XM_011537072.2:c.1787G>C	XP_011535374.1:p.Gly596Ala
XM_017021582.1:c.2045G>C	XP_016877071.1:p.Gly682Ala
XM_017021583.1:c.2036G>C	XP_016877072.1:p.Gly679Ala
XM_017021584.1:c.1955G>C	XP_016877073.1:p.Gly652Ala
XM_017021585.1:c.1904G>C	XP_016877074.1:p.Gly635Ala
XM_017021586.1:c.1580G>C	XP_016877075.1:p.Gly527Ala
XM_017021587.1:c.1580G>C	XP_016877076.1:p.Gly527Ala
XM_017021588.1:c.1580G>C	XP_016877077.1:p.Gly527Ala
NM_001164749.2:c.1886G>C MANE Select	NP_001158221.1:p.Gly629Ala
NM_001165893.2:c.1796G>C	NP_001159365.1:p.Gly599Ala
NM_022123.3:c.1790G>C	NP_071406.1:p.Gly597Ala
NM_173159.3:c.1847G>C	NP_775182.1:p.Gly616Ala
NM_001394988.1:c.1841G>C	NP_001381917.1:p.Gly614Ala
NM_001394989.1:c.1787G>C	NP_001381918.1:p.Gly596Ala