Canonical Allele Identifier: CA389412353

Gene: NPAS3

Linked Data

• gnomAD v4: 14-33800087-T-C
• MyVariant Identifiers: chr14:g.34269293T>C (hg19) ; chr14:g.33800087T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800087T>C , CM000676.2:g.33800087T>C	GRCh38
NC_000014.8:g.34269293T>C , CM000676.1:g.34269293T>C	GRCh37
NC_000014.7:g.33339044T>C	NCBI36
NG_013036.1:g.865835T>C
NG_013036.2:g.865835T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1780T>C MANE Select	ENSP00000348460.4:p.Ser594Pro
ENST00000551634.6:c.1789T>C	ENSP00000448373.2:p.Ser597Pro
ENST00000680362.1:c.1680T>C
ENST00000681323.1:c.793+2506T>C
ENST00000346562.6:c.1684T>C	ENSP00000319610.5:p.Ser562Pro
ENST00000356141.8:c.1780T>C	ENSP00000348460.4:p.Ser594Pro
ENST00000357798.9:c.1741T>C	ENSP00000350446.5:p.Ser581Pro
ENST00000548645.5:c.1690T>C	ENSP00000448916.1:p.Ser564Pro
ENST00000551492.5:c.1795T>C	ENSP00000450392.1:p.Ser599Pro
ENST00000551634.5:c.1702T>C	ENSP00000448373.1:p.Ser568Pro
NM_001164749.1:c.1780T>C	NP_001158221.1:p.Ser594Pro
NM_001165893.1:c.1690T>C	NP_001159365.1:p.Ser564Pro
NM_022123.2:c.1684T>C	NP_071406.1:p.Ser562Pro
NM_173159.2:c.1741T>C	NP_775182.1:p.Ser581Pro
XM_005267991.2:c.1801T>C	XP_005268048.1:p.Ser601Pro
XM_005267992.2:c.1795T>C	XP_005268049.1:p.Ser599Pro
XM_005267993.2:c.1741T>C	XP_005268050.1:p.Ser581Pro
XM_011537067.1:c.1831T>C	XP_011535369.1:p.Ser611Pro
XM_011537068.1:c.1822T>C	XP_011535370.1:p.Ser608Pro
XM_011537069.1:c.1792T>C	XP_011535371.1:p.Ser598Pro
XM_011537070.1:c.1735T>C	XP_011535372.1:p.Ser579Pro
XM_011537071.1:c.1702T>C	XP_011535373.1:p.Ser568Pro
XM_011537072.1:c.1681T>C	XP_011535374.1:p.Ser561Pro
XM_011537073.1:c.1474T>C	XP_011535375.1:p.Ser492Pro
XM_011537074.1:c.1474T>C	XP_011535376.1:p.Ser492Pro
XM_005267991.3:c.1888T>C	XP_005268048.2:p.Ser630Pro
XM_005267992.3:c.1882T>C	XP_005268049.2:p.Ser628Pro
XM_011537067.2:c.1831T>C	XP_011535369.1:p.Ser611Pro
XM_011537069.2:c.1879T>C	XP_011535371.2:p.Ser627Pro
XM_011537070.2:c.1735T>C	XP_011535372.1:p.Ser579Pro
XM_011537071.2:c.1789T>C	XP_011535373.2:p.Ser597Pro
XM_011537072.2:c.1681T>C	XP_011535374.1:p.Ser561Pro
XM_017021582.1:c.1939T>C	XP_016877071.1:p.Ser647Pro
XM_017021583.1:c.1930T>C	XP_016877072.1:p.Ser644Pro
XM_017021584.1:c.1849T>C	XP_016877073.1:p.Ser617Pro
XM_017021585.1:c.1798T>C	XP_016877074.1:p.Ser600Pro
XM_017021586.1:c.1474T>C	XP_016877075.1:p.Ser492Pro
XM_017021587.1:c.1474T>C	XP_016877076.1:p.Ser492Pro
XM_017021588.1:c.1474T>C	XP_016877077.1:p.Ser492Pro
NM_001164749.2:c.1780T>C MANE Select	NP_001158221.1:p.Ser594Pro
NM_001165893.2:c.1690T>C	NP_001159365.1:p.Ser564Pro
NM_022123.3:c.1684T>C	NP_071406.1:p.Ser562Pro
NM_173159.3:c.1741T>C	NP_775182.1:p.Ser581Pro
NM_001394988.1:c.1735T>C	NP_001381917.1:p.Ser579Pro
NM_001394989.1:c.1681T>C	NP_001381918.1:p.Ser561Pro