Canonical Allele Identifier: CA389413113

Gene: NPAS3

Linked Data

• gnomAD v4: 14-33800230-C-G
• MyVariant Identifiers: chr14:g.34269436C>G (hg19) ; chr14:g.33800230C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800230C>G , CM000676.2:g.33800230C>G	GRCh38
NC_000014.8:g.34269436C>G , CM000676.1:g.34269436C>G	GRCh37
NC_000014.7:g.33339187C>G	NCBI36
NG_013036.1:g.865978C>G
NG_013036.2:g.865978C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1923C>G MANE Select	ENSP00000348460.4:p.Asn641Lys
ENST00000551634.6:c.1932C>G	ENSP00000448373.2:p.Asn644Lys
ENST00000680362.1:c.1823C>G
ENST00000681323.1:c.793+2649C>G
ENST00000346562.6:c.1827C>G	ENSP00000319610.5:p.Asn609Lys
ENST00000356141.8:c.1923C>G	ENSP00000348460.4:p.Asn641Lys
ENST00000357798.9:c.1884C>G	ENSP00000350446.5:p.Asn628Lys
ENST00000548645.5:c.1833C>G	ENSP00000448916.1:p.Asn611Lys
ENST00000551492.5:c.1938C>G	ENSP00000450392.1:p.Asn646Lys
ENST00000551634.5:c.1845C>G	ENSP00000448373.1:p.Asn615Lys
NM_001164749.1:c.1923C>G	NP_001158221.1:p.Asn641Lys
NM_001165893.1:c.1833C>G	NP_001159365.1:p.Asn611Lys
NM_022123.2:c.1827C>G	NP_071406.1:p.Asn609Lys
NM_173159.2:c.1884C>G	NP_775182.1:p.Asn628Lys
XM_005267991.2:c.1944C>G	XP_005268048.1:p.Asn648Lys
XM_005267992.2:c.1938C>G	XP_005268049.1:p.Asn646Lys
XM_005267993.2:c.1884C>G	XP_005268050.1:p.Asn628Lys
XM_011537067.1:c.1974C>G	XP_011535369.1:p.Asn658Lys
XM_011537068.1:c.1965C>G	XP_011535370.1:p.Asn655Lys
XM_011537069.1:c.1935C>G	XP_011535371.1:p.Asn645Lys
XM_011537070.1:c.1878C>G	XP_011535372.1:p.Asn626Lys
XM_011537071.1:c.1845C>G	XP_011535373.1:p.Asn615Lys
XM_011537072.1:c.1824C>G	XP_011535374.1:p.Asn608Lys
XM_011537073.1:c.1617C>G	XP_011535375.1:p.Asn539Lys
XM_011537074.1:c.1617C>G	XP_011535376.1:p.Asn539Lys
XM_005267991.3:c.2031C>G	XP_005268048.2:p.Asn677Lys
XM_005267992.3:c.2025C>G	XP_005268049.2:p.Asn675Lys
XM_011537067.2:c.1974C>G	XP_011535369.1:p.Asn658Lys
XM_011537069.2:c.2022C>G	XP_011535371.2:p.Asn674Lys
XM_011537070.2:c.1878C>G	XP_011535372.1:p.Asn626Lys
XM_011537071.2:c.1932C>G	XP_011535373.2:p.Asn644Lys
XM_011537072.2:c.1824C>G	XP_011535374.1:p.Asn608Lys
XM_017021582.1:c.2082C>G	XP_016877071.1:p.Asn694Lys
XM_017021583.1:c.2073C>G	XP_016877072.1:p.Asn691Lys
XM_017021584.1:c.1992C>G	XP_016877073.1:p.Asn664Lys
XM_017021585.1:c.1941C>G	XP_016877074.1:p.Asn647Lys
XM_017021586.1:c.1617C>G	XP_016877075.1:p.Asn539Lys
XM_017021587.1:c.1617C>G	XP_016877076.1:p.Asn539Lys
XM_017021588.1:c.1617C>G	XP_016877077.1:p.Asn539Lys
NM_001164749.2:c.1923C>G MANE Select	NP_001158221.1:p.Asn641Lys
NM_001165893.2:c.1833C>G	NP_001159365.1:p.Asn611Lys
NM_022123.3:c.1827C>G	NP_071406.1:p.Asn609Lys
NM_173159.3:c.1884C>G	NP_775182.1:p.Asn628Lys
NM_001394988.1:c.1878C>G	NP_001381917.1:p.Asn626Lys
NM_001394989.1:c.1824C>G	NP_001381918.1:p.Asn608Lys