Canonical Allele Identifier: CA389413210

Gene: NPAS3

Linked Data

• MyVariant Identifiers: chr14:g.34269458A>C (hg19) ; chr14:g.33800252A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800252A>C , CM000676.2:g.33800252A>C	GRCh38
NC_000014.8:g.34269458A>C , CM000676.1:g.34269458A>C	GRCh37
NC_000014.7:g.33339209A>C	NCBI36
NG_013036.1:g.866000A>C
NG_013036.2:g.866000A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1945A>C MANE Select	ENSP00000348460.4:p.Lys649Gln
ENST00000551634.6:c.1954A>C	ENSP00000448373.2:p.Lys652Gln
ENST00000680362.1:c.1845A>C
ENST00000681323.1:c.793+2671A>C
ENST00000346562.6:c.1849A>C	ENSP00000319610.5:p.Lys617Gln
ENST00000356141.8:c.1945A>C	ENSP00000348460.4:p.Lys649Gln
ENST00000357798.9:c.1906A>C	ENSP00000350446.5:p.Lys636Gln
ENST00000548645.5:c.1855A>C	ENSP00000448916.1:p.Lys619Gln
ENST00000551492.5:c.1960A>C	ENSP00000450392.1:p.Lys654Gln
ENST00000551634.5:c.1867A>C	ENSP00000448373.1:p.Lys623Gln
NM_001164749.1:c.1945A>C	NP_001158221.1:p.Lys649Gln
NM_001165893.1:c.1855A>C	NP_001159365.1:p.Lys619Gln
NM_022123.2:c.1849A>C	NP_071406.1:p.Lys617Gln
NM_173159.2:c.1906A>C	NP_775182.1:p.Lys636Gln
XM_005267991.2:c.1966A>C	XP_005268048.1:p.Lys656Gln
XM_005267992.2:c.1960A>C	XP_005268049.1:p.Lys654Gln
XM_005267993.2:c.1906A>C	XP_005268050.1:p.Lys636Gln
XM_011537067.1:c.1996A>C	XP_011535369.1:p.Lys666Gln
XM_011537068.1:c.1987A>C	XP_011535370.1:p.Lys663Gln
XM_011537069.1:c.1957A>C	XP_011535371.1:p.Lys653Gln
XM_011537070.1:c.1900A>C	XP_011535372.1:p.Lys634Gln
XM_011537071.1:c.1867A>C	XP_011535373.1:p.Lys623Gln
XM_011537072.1:c.1846A>C	XP_011535374.1:p.Lys616Gln
XM_011537073.1:c.1639A>C	XP_011535375.1:p.Lys547Gln
XM_011537074.1:c.1639A>C	XP_011535376.1:p.Lys547Gln
XM_005267991.3:c.2053A>C	XP_005268048.2:p.Lys685Gln
XM_005267992.3:c.2047A>C	XP_005268049.2:p.Lys683Gln
XM_011537067.2:c.1996A>C	XP_011535369.1:p.Lys666Gln
XM_011537069.2:c.2044A>C	XP_011535371.2:p.Lys682Gln
XM_011537070.2:c.1900A>C	XP_011535372.1:p.Lys634Gln
XM_011537071.2:c.1954A>C	XP_011535373.2:p.Lys652Gln
XM_011537072.2:c.1846A>C	XP_011535374.1:p.Lys616Gln
XM_017021582.1:c.2104A>C	XP_016877071.1:p.Lys702Gln
XM_017021583.1:c.2095A>C	XP_016877072.1:p.Lys699Gln
XM_017021584.1:c.2014A>C	XP_016877073.1:p.Lys672Gln
XM_017021585.1:c.1963A>C	XP_016877074.1:p.Lys655Gln
XM_017021586.1:c.1639A>C	XP_016877075.1:p.Lys547Gln
XM_017021587.1:c.1639A>C	XP_016877076.1:p.Lys547Gln
XM_017021588.1:c.1639A>C	XP_016877077.1:p.Lys547Gln
NM_001164749.2:c.1945A>C MANE Select	NP_001158221.1:p.Lys649Gln
NM_001165893.2:c.1855A>C	NP_001159365.1:p.Lys619Gln
NM_022123.3:c.1849A>C	NP_071406.1:p.Lys617Gln
NM_173159.3:c.1906A>C	NP_775182.1:p.Lys636Gln
NM_001394988.1:c.1900A>C	NP_001381917.1:p.Lys634Gln
NM_001394989.1:c.1846A>C	NP_001381918.1:p.Lys616Gln