Canonical Allele Identifier: CA389412521

Gene: NPAS3

Linked Data

• MyVariant Identifiers: chr14:g.34269317A>C (hg19) ; chr14:g.33800111A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800111A>C , CM000676.2:g.33800111A>C	GRCh38
NC_000014.8:g.34269317A>C , CM000676.1:g.34269317A>C	GRCh37
NC_000014.7:g.33339068A>C	NCBI36
NG_013036.1:g.865859A>C
NG_013036.2:g.865859A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1804A>C MANE Select	ENSP00000348460.4:p.Lys602Gln
ENST00000551634.6:c.1813A>C	ENSP00000448373.2:p.Lys605Gln
ENST00000680362.1:c.1704A>C
ENST00000681323.1:c.793+2530A>C
ENST00000346562.6:c.1708A>C	ENSP00000319610.5:p.Lys570Gln
ENST00000356141.8:c.1804A>C	ENSP00000348460.4:p.Lys602Gln
ENST00000357798.9:c.1765A>C	ENSP00000350446.5:p.Lys589Gln
ENST00000548645.5:c.1714A>C	ENSP00000448916.1:p.Lys572Gln
ENST00000551492.5:c.1819A>C	ENSP00000450392.1:p.Lys607Gln
ENST00000551634.5:c.1726A>C	ENSP00000448373.1:p.Lys576Gln
NM_001164749.1:c.1804A>C	NP_001158221.1:p.Lys602Gln
NM_001165893.1:c.1714A>C	NP_001159365.1:p.Lys572Gln
NM_022123.2:c.1708A>C	NP_071406.1:p.Lys570Gln
NM_173159.2:c.1765A>C	NP_775182.1:p.Lys589Gln
XM_005267991.2:c.1825A>C	XP_005268048.1:p.Lys609Gln
XM_005267992.2:c.1819A>C	XP_005268049.1:p.Lys607Gln
XM_005267993.2:c.1765A>C	XP_005268050.1:p.Lys589Gln
XM_011537067.1:c.1855A>C	XP_011535369.1:p.Lys619Gln
XM_011537068.1:c.1846A>C	XP_011535370.1:p.Lys616Gln
XM_011537069.1:c.1816A>C	XP_011535371.1:p.Lys606Gln
XM_011537070.1:c.1759A>C	XP_011535372.1:p.Lys587Gln
XM_011537071.1:c.1726A>C	XP_011535373.1:p.Lys576Gln
XM_011537072.1:c.1705A>C	XP_011535374.1:p.Lys569Gln
XM_011537073.1:c.1498A>C	XP_011535375.1:p.Lys500Gln
XM_011537074.1:c.1498A>C	XP_011535376.1:p.Lys500Gln
XM_005267991.3:c.1912A>C	XP_005268048.2:p.Lys638Gln
XM_005267992.3:c.1906A>C	XP_005268049.2:p.Lys636Gln
XM_011537067.2:c.1855A>C	XP_011535369.1:p.Lys619Gln
XM_011537069.2:c.1903A>C	XP_011535371.2:p.Lys635Gln
XM_011537070.2:c.1759A>C	XP_011535372.1:p.Lys587Gln
XM_011537071.2:c.1813A>C	XP_011535373.2:p.Lys605Gln
XM_011537072.2:c.1705A>C	XP_011535374.1:p.Lys569Gln
XM_017021582.1:c.1963A>C	XP_016877071.1:p.Lys655Gln
XM_017021583.1:c.1954A>C	XP_016877072.1:p.Lys652Gln
XM_017021584.1:c.1873A>C	XP_016877073.1:p.Lys625Gln
XM_017021585.1:c.1822A>C	XP_016877074.1:p.Lys608Gln
XM_017021586.1:c.1498A>C	XP_016877075.1:p.Lys500Gln
XM_017021587.1:c.1498A>C	XP_016877076.1:p.Lys500Gln
XM_017021588.1:c.1498A>C	XP_016877077.1:p.Lys500Gln
NM_001164749.2:c.1804A>C MANE Select	NP_001158221.1:p.Lys602Gln
NM_001165893.2:c.1714A>C	NP_001159365.1:p.Lys572Gln
NM_022123.3:c.1708A>C	NP_071406.1:p.Lys570Gln
NM_173159.3:c.1765A>C	NP_775182.1:p.Lys589Gln
NM_001394988.1:c.1759A>C	NP_001381917.1:p.Lys587Gln
NM_001394989.1:c.1705A>C	NP_001381918.1:p.Lys569Gln